Zobrazeno 1 - 10
of 43
pro vyhledávání: '"van Gassen KL"'
Autor:
van Gassen KL, van der Heijden CD, de Bot ST, den Dunnen WF, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HP, Veldink JH, Kamsteeg EJ, Scheffer H, van de Warrenburg BP
Publikováno v:
Brain: A Journal of Neurology; Oct2012, Vol. 135 Issue 10, p2994-3004, 11p
Autor:
Gong M; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; The Ninth Medical Center of PLA General Hospital, Beijing, China., Li J; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China; Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China., Qin Z; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China., Machado Bressan Wilke MV; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Liu Y; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; Savaid Medical School, University of Chinese Academy of Sciences, Beijing, China., Li Q; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; Savaid Medical School, University of Chinese Academy of Sciences, Beijing, China., Liu H; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China., Liang C; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China., Morales-Rosado JA; Department of Pathology, Microbiology & Immunology, Vanderbilt University Medical Center, Nashville, TN, USA., Cohen ASA; Department of Pathology and Laboratory Medicine, Genomic Medicine Center, Children's Mercy-Kansas City, Kansas City, MO, USA; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA., Hughes SS; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA., Sullivan BR; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA., Waddell V; Department of Neurology, Children's Mercy Kansas City, Kansas City, MO, USA., van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., van Gassen KL; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., Wang T; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Autism Research Center, Peking University Health Science Center, Beijing, China; Neuroscience Research Institute, Peking University, Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Amaral MD; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Zhao J; Department of Neurology Beijing Children's Hospital, Capital Medical University, Beijing, China., Feng W; Department of Neurology Beijing Children's Hospital, Capital Medical University, Beijing, China., Ren C; Department of Neurology Beijing Children's Hospital, Capital Medical University, Beijing, China., Yu Y; Department of Pediatrics, Beijing Tiantan Hospital affiliated with Capital University of Medical Sciences, Beijing, China., Boczek NJ; Department of Laboratory Medicine and Pathology, Genomics Laboratory, Mayo Clinic, Rochester, MN, USA., Ferber MJ; Department of Laboratory Medicine and Pathology, Genomics Laboratory, Mayo Clinic, Rochester, MN, USA., Lahner C; Department of Laboratory Medicine and Pathology, Genomics Laboratory, Mayo Clinic, Rochester, MN, USA., Elliott S; Departments of Neurology and Pediatrics, Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Ruan Y; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China., Mignot C; APHP Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière et Hôpital Trousseau, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Keren B; APHP Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière et Hôpital Trousseau, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Xie H; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China., Wang X; Department of Children's Nutrition Research Center, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing, China., Popp B; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany; Berlin Institute of Health at Charité-Universitäts medizin Berlin, Center of Functional Genomics, Hessische Straße 4A, Berlin, Germany., Zweier C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander Universität Erlangen-Nürnberg, Erlangen, Germany., Piard J; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France., Coubes C; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée Hôpital Arnaud de Villeneuve, 34295 Montpellier Cedex, Dijon, France., Mau-Them FT; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France; Inserm UMR1231 GAD, 21000 Dijon, France., Safraou H; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France; Inserm UMR1231 GAD, 21000 Dijon, France., Innes AM; Department of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Gauthier J; Molecular Diagnostic Laboratory, Centre Hospitalier Universitaire Sainte-Justine, Montréal, QC, Canada; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada., Michaud JL; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada; CHU Sainte-Justine Research Center, Montreal, QC, Canada., Koboldt DC; The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Sylvie O; Service de Génétique clinique, CHU Rennes, ERN ITHACA, Rennes, France; University Rennes, CNRS, INSERM, IGDR (Institut de Génétique et développement de Rennes), UMR 6290, ERL U1305, Rennes, France., Willems M; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Inserm U1298, INM, Montpellier University, Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Cogne B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Rieubland C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., McLean SD; Division of Clinical Genetics, The Children's Hospital of San Antonio, San Antonio, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Zacher P; Epilepsy Center Kleinwachau, Dresden-Radeberg, Germany., Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Evenepoel L; Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Avenue Hippocrate 10-1200, Brussels, Belgium., Blanc P; Sorbonne Université, Department of Medical Genetics, APHP, Pitié-Salpêtrière hospital, Paris Brain Institute-ICM, Laboratoire SeqOIA-PFMG2025, Paris, France., El Khattabi L; Department of Medical Genetics, APHP, Armand Trousseau and Pitié-Salpêtrière hospitals, Brain Development team, Paris Brain Institute-ICM, Sorbonne Université, Paris, France; Laboratoire SeqOIA-PFMG2025, Paris, France., Haque N; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA., Dsouza NR; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA., Zimmermann MT; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA., Urrutia R; Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA., Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA., Shen Y; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; SynerGene Education, Hejun College, Huichang Jiangxi, China., Du H; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China., Rappaport L; Division of Developmental Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Liu CM; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; Savaid Medical School, University of Chinese Academy of Sciences, Beijing, China. Electronic address: liuchm@ioz.ac.cn., Chen X; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China; Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China. Electronic address: xiaolichen@pumc.edu.cn.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Oct 11. Date of Electronic Publication: 2024 Oct 11.
Autor:
Pozojevic J; Institute of Human Genetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany. jelena.pozojevic@uksh.de., Sivaprasad R; Institute of Human Genetics, University of Kiel and University Hospital Schleswig-Holstein, Kiel, Germany., Laß J; Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany., Haarich F; Institute of Cardiogenetics, University of Lübeck and German Centre for Cardiovascular Research (DZHK), Partner Site Hamburg/Lübeck/Kiel, Lübeck, Germany., Trinh J; Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany., Kakar N; Institute of Human Genetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.; Department of Biotechnology, FLS&I, BUITEMS, Quetta, Pakistan., Schulz K; Institute of Human Genetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany., Händler K; Institute of Human Genetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany., Verrijn Stuart AA; Department of Pediatric Endocrinology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands., Giltay JC; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Gassen KL; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Caliebe A; Institute of Human Genetics, University of Kiel and University Hospital Schleswig-Holstein, Kiel, Germany., Holterhus PM; Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, University Hospital Schleswig-Holstein, Kiel, Germany., Spielmann M; Institute of Human Genetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Human Genetics, University of Kiel and University Hospital Schleswig-Holstein, Kiel, Germany.; Human Molecular Genomics Group, Max Planck Institute for Molecular Genetics, Berlin, Germany.; German Centre for Cardiovascular Research (DZHK), Partner Site Hamburg/Lübeck/Kiel, Lübeck, Germany., Hornig NC; Institute of Human Genetics, University of Kiel and University Hospital Schleswig-Holstein, Kiel, Germany. nadine.hornig@uksh.de.
Publikováno v:
Scientific reports [Sci Rep] 2024 Jul 15; Vol. 14 (1), pp. 16302. Date of Electronic Publication: 2024 Jul 15.
Autor:
Houdayer C, Phillips AM, Chabbert M, Bourreau J, Maroofian R, Houlden H, Richards K, Saadi NW, Dad'ová E, Van Bogaert P, Rupin M, Keren B, Charles P, Smol T, Riquet A, Pais L, O'Donnell-Luria A, VanNoy GE, Bayat A, Møller RS, Olofsson K, Abou Jamra R, Syrbe S, Dasouki M, Seaver LH, Sullivan JA, Shashi V, Alkuraya FS, Poss AF, Spence JE, Schnur RE, Forster IC, Mckenzie CE, Simons C, Wang M, Snell P, Kothur K, Buckley M, Roscioli T, Elserafy N, Dauriat B, Procaccio V, Henrion D, Lenaers G, Colin E, Verbeek NE, Van Gassen KL, Legendre C, Bonneau D, Reid CA, Howell KB, Ziegler A, Legros C
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Mar 22. Date of Electronic Publication: 2024 Mar 22.
Autor:
Cuinat S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France. Electronic address: silvestre.cuinat@chu-nantes.fr., Nizon M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France., Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France., Stegmann A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Gassen KL; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van der Smagt JJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Volker-Touw CML; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Holwerda SJB; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Khalifa M; Genetic Department, Dubai Health Authority, Latifa Women and Children Hospital, Dubai, United Arab Emirates., Nugud AA; Genetic Department, Dubai Health Authority, Latifa Women and Children Hospital, Dubai, United Arab Emirates., Yasaei H; Dubai Genetics Center, Pathology and Genetics Department, Dubai Health Authority, Dubai, United Arab Emirates., Ousager LB; Department of Clinical Genetics & Human Genetics, Odense University Hospital, University of Southern Denmark, Odense, Denmark; Department of Clinical Research, Odense University Hospital, University of Southern Denmark, Odense, Denmark., Brasch-Andersen C; Department of Clinical Genetics & Human Genetics, Odense University Hospital, University of Southern Denmark, Odense, Denmark; Department of Clinical Research, Odense University Hospital, University of Southern Denmark, Odense, Denmark., Deb W; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France., Besnard T; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France., Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Amsterdam KH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Verbeek NE; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Matalon D; Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA., Dykzeul N; Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA., White S; Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA., Spiteri E; Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA., Devriendt K; Center for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49, Leuven, Belgium., Boogaerts A; Center for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49, Leuven, Belgium., Willemsen M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., De Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Gerkes EH; University Medical Center Groningen, Department of Genetics, University of Groningen, Groningen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Izumi K; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA., Krantz ID; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA., Xu ZL; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA., Murrell JR; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA., Valenzuela I; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain., Cusco I; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain., Rovira-Moreno E; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain., Yang Y; AiLife Diagnostics, Pearland, TX., Bizaoui V; Clinical Genetics and Neurodevelopmental Disorders, Centre Hospitalier de l'Estran, Pontorson, France., Patat O; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France., Faivre L; Centre de référence Anomalies du Développement et Syndromes malformatifs, FHU-TRANSLAD, GAD, CHU Dijon et Université de Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France., Tran-Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France., Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France., Denommé-Pichon AS; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France., Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France., Bezieau S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France., Cogné B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France. Electronic address: benjamin.cogne@chu-nantes.fr.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Aug; Vol. 24 (8), pp. 1774-1780. Date of Electronic Publication: 2022 May 14.
Autor:
Vears DF; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; Melbourne Law School, The University of Melbourne, Carlton, Victoria, Australia; Center for Biomedical Ethics and Law, Department of Public Health and Primary Care, Faculty of Medicine, KU Leuven, Leuven, Belgium; Leuven Institute for Human Genetics and Society (LIGAS), KU Leuven, Leuven, Belgium. Electronic address: danya.vears@mcri.edu.au., Elferink M; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Kriek M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Borry P; Center for Biomedical Ethics and Law, Department of Public Health and Primary Care, Faculty of Medicine, KU Leuven, Leuven, Belgium; Leuven Institute for Human Genetics and Society (LIGAS), KU Leuven, Leuven, Belgium., van Gassen KL; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jun; Vol. 24 (6), pp. 1306-1315. Date of Electronic Publication: 2022 Apr 07.
Autor:
Vears DF; Melbourne Law School, University of Melbourne, Carlton, Australia. dvears@unimelb.edu.au.; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Australia. dvears@unimelb.edu.au.; Center for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium. dvears@unimelb.edu.au.; Leuven Institute for Human Genetics and Society, Leuven, Belgium. dvears@unimelb.edu.au., Elferink M; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Kriek M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Borry P; Center for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium.; Leuven Institute for Human Genetics and Society, Leuven, Belgium., van Gassen KL; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Mar; Vol. 23 (3), pp. 562-570. Date of Electronic Publication: 2020 Oct 30.
Autor:
Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, 00161 Italy; Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USA., Martinelli S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, 00161 Italy., Van Dijck A; Department of Medical Genetics, University of Antwerp, Edegem, 2650 Belgium; Department of Neurology, Antwerp University Hospital, Edegem, 2650 Belgium., Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy., Cecchetti S; Microscopy Area, Core Facilities, Istituto Superiore di Sanità, Rome, 00161 Italy., Coluzzi E; Department of Science, University Roma Tre, Rome, 00146 Italy., Pannone L; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, 00161 Italy; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy., Andreoli C; Department of Environment and Health, Istituto Superiore di Sanità, Rome, 00161 Italy., Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy., Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy., Carpentieri G; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, 00161 Italy; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy., Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, 00161 Italy., Catanzaro G; Department of Experimental Medicine, Sapienza University, Rome, 00161 Italy., Pedace L; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, 00146 Italy., Miele E; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, 00146 Italy., Carcarino E; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, 00146 Italy; Current affiliation: Cordeliers Research Centre, Inserm 1138, Sorbonne Université, Paris, 75006 France., Ge X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Current affiliation: Department of Genetics and Genomic Sciences, The Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Chijiwa C; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6H 3N1, Canada., Lewis MES; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6H 3N1, Canada., Meuwissen M; Department of Medical Genetics, University of Antwerp, Edegem, 2650 Belgium., Kenis S; Department of Neurology, Antwerp University Hospital, Edegem, 2650 Belgium., Van der Aa N; Department of Medical Genetics, University of Antwerp, Edegem, 2650 Belgium., Larson A; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA., Brown K; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA., Wasserstein MP; Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USA., Skotko BG; Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02114, USA., Begtrup A; GeneDx, Gaithersburg, MD 20877, USA., Person R; GeneDx, Gaithersburg, MD 20877, USA., Karayiorgou M; Department of Psychiatry, Columbia University Medical Center, New York, NY 10032, USA., Roos JL; Department of Psychiatry, University of Pretoria, Weskoppies Hospital, Pretoria, 0001 South Africa., Van Gassen KL; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3508 AB the Netherlands., Koopmans M; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3508 AB the Netherlands., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2300 RC the Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2300 RC the Netherlands., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2300 RC the Netherlands., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2300 RC the Netherlands., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2300 RC the Netherlands., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Craigen WJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Graham BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA., van den Elzen APM; Departement of Pediatrics, Reinier de Graaf Ziekenhuis, Delft, 2600 GA the Netherlands., Kamphuis DJ; Departement of Neurology, Reinier de Graaf Ziekenhuis, Delft, 2600 GA the Netherlands., Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, 50406 Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, 50406 Estonia., Reinson K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, 50406 Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, 50406 Estonia., Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, 50406 Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, 50406 Estonia; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA., Wojcik MH; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Viberti C; Department of Medical Sciences, University of Turin, Turin, 10126 Italy; Italian Institute for Genomic Medicine, Turin, 10126 Italy., Di Gaetano C; Department of Medical Sciences, University of Turin, Turin, 10126 Italy; Italian Institute for Genomic Medicine, Turin, 10126 Italy., Bertini E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy., Petrucci S; Department of Clinical and Molecular Medicine, Sapienza University, Rome, 00189 Italy; Division of Medical Genetics, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, 71013 Italy., De Luca A; Division of Medical Genetics, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, 71013 Italy., Rota R; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, 00146 Italy., Ferretti E; Department of Experimental Medicine, Sapienza University, Rome, 00161 Italy; Istituto Neuromed, IRCCS, Pozzilli, 86077 Italy., Matullo G; Department of Medical Sciences, University of Turin, Turin, 10126 Italy; Italian Institute for Genomic Medicine, Turin, 10126 Italy., Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy., Sgura A; Department of Science, University Roma Tre, Rome, 00146 Italy., Walkiewicz M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Current affiliation: National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD 20892, USA., Kooy RF; Department of Medical Genetics, University of Antwerp, Edegem, 2650 Belgium. Electronic address: frank.kooy@uantwerpen.be., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address: marco.tartaglia@opbg.net.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2019 Sep 05; Vol. 105 (3), pp. 493-508. Date of Electronic Publication: 2019 Aug 22.
Autor:
Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., van der Werf IM; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Innes AM; Alberta Children's Hospital Research Institute and Department of Medical Genetics, Cumming School of Medicine, University of Calgary, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada., Afenjar A; Centre de Référence Déficiences Intellectuelles de Causes Rares, 75013, Paris, France.; APHP, GHUEP, Hôpital Armand Trousseau, Centre de Référence 'Malformations et maladies congénitales du cervelet', 75012, Paris, France., Agrawal PB; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Anderson IJ; The University of Tennessee Genetics Center, Knoxville, TN, 37920, USA., Atwal PS; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, 32224, USA., van Binsbergen E; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., van den Boogaard MJ; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., Castiglia L; Laboratory of Medical Genetics, Oasi Research Institute, 94018, Troina, Italy., Coban-Akdemir ZH; Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., van Dijck A; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Doummar D; APHP, Service de Neurologie pédiatrique, Hôpital Armand Trousseau, Paris, France.; Sorbonne Université,GRC ConCer-LD, AP-HP, Hôpital Trousseau, Paris, France.; Service de neuropediatrie, Hôpital Trousseau, 26 avenue du dr Arnold Netter, 75012, Paris, France., van Eerde AM; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., van Essen AJ; Department of Genetics, University of Groningen, University Medical Center Groningen (UMCG), 9700 RB, Groningen, The Netherlands., van Gassen KL; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, 20877, USA., van Haelst MM; Department of Clinical Genetics, VU University Medical Center, 1081 HV, Amsterdam, The Netherlands., Iossifov I; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, NY, 11724, USA.; New York Genome Center, New York, NY, 10013, USA., Jackson JL; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, 32224, USA., Judd E; Department of Psychiatry, Washington University School of Medicine, St Louis, MO, 63110, USA., Kaiwar C; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ, 85259, USA.; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA., Keren B; Département de Génétique, APHP, GH Pitié-Salpêtrière, Paris, 75013, France., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA., Klein Wassink-Ruiter JS; Department of Genetics, University of Groningen, University Medical Center Groningen (UMCG), 9700 RB, Groningen, The Netherlands., Meuwissen ME; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Monaghan KG; GeneDx, Gaithersburg, MD, 20877, USA., de Munnik SA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Nava C; Département de Génétique, APHP, GH Pitié-Salpêtrière, Paris, 75013, France.; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Université de Paris 06, 75013, Paris, France., Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Pettinato R; Pediatrics and Medical Genetics, Oasi Research Institute - IRCCS, 94018, Troina, Italy., Racher H; Alberta Children's Hospital Research Institute and Department of Medical Genetics, Cumming School of Medicine, University of Calgary, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada.; Impact Genetics, 1100 Bennett Road, Bowmanville, ON, L1C 3K5, Canada., Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Romano C; Pediatrics and Medical Genetics, Oasi Research Institute - IRCCS, 94018, Troina, Italy., Sanders VR; Department of Pediatrics, Division of Genetics, Birth Defects and Metabolism, Ann and Robert H Lurie Children's Hospital of Chicago, 225 East Chicago Avenue, Chicago, IL, 60611, USA., Schnur RE; GeneDx, Gaithersburg, MD, 20877, USA., Smeets EJ; Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 9229 ER, Maastricht, The Netherlands., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 9229 ER, Maastricht, The Netherlands., Stray-Pedersen A; Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, 77030, USA.; Norwegian National Unit for Newborn Screening, Department of Pediatric and Adolescent Medicine, Oslo University Hospital, Pb 4950 Nydalen, 0424, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, 0318, Oslo, Norway., Sweetser DA; Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, 02114, USA., Terhal PA; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710, Skien, Norway., VanNoy GE; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., de Vries PF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Waxler JL; Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, 02114, USA., Willing M; Department of Pediatrics, Washington University School of Medicine, St Louis, MO, 63110, USA., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Veltman JA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle, NE1 3BZ, UK., Kooy RF; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. bert.devries@radboudumc.nl.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2019 May; Vol. 27 (5), pp. 738-746. Date of Electronic Publication: 2019 Jan 24.
Autor:
Monroe GR; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Tessadori F; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584, CT, The Netherlands., Duran KJ; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Savelberg SMC; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van Alfen JC; Bartiméus, Institute for the Visually Impaired, Doorn, 3940, AB, The Netherlands., Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van der Crabben SN; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, 3584, EA, The Netherlands., Lichtenbelt KD; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Fuchs SA; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, 3584, EA, The Netherlands., Gerrits J; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van Roosmalen MJ; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van Gassen KL; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van Aalderen M; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Koot BG; Department of Pediatric Gastroenterology and Nutrition, Academic Medical Center, Amsterdam, 1105, AZ, The Netherlands., Oostendorp M; Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Laboratory of Clinical Chemistry, Deventer Hospital, Deventer, 7416, SE, The Netherlands., Duran M; Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, 1105, AZ, The Netherlands., Visser G; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, 3584, EA, The Netherlands., de Koning TJ; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, 9713, GZ, The Netherlands., Calì F; Oasi Research Institute-IRCCS, Troina, 94018, Italy., Bosco P; Oasi Research Institute-IRCCS, Troina, 94018, Italy., Geleijns K; Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., de Sain-van der Velden MGM; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Knoers NV; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Bakkers J; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584, CT, The Netherlands.; Department of Medical Physiology, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., Verhoeven-Duif NM; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands., van Haaften G; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands. G.vanHaaften@umcutrecht.nl.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands. G.vanHaaften@umcutrecht.nl., Jans JJ; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584, CX, The Netherlands.
Publikováno v:
Nature communications [Nat Commun] 2019 Apr 01; Vol. 10 (1), pp. 1477. Date of Electronic Publication: 2019 Apr 01.