Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Schieving JH"'
Publikováno v:
European Journal of Paediatric Neurology; Sep2013 Supplement, Vol. 17, pS66-S66, 1p
Publikováno v:
European Journal of Paediatric Neurology; Sep2013 Supplement, Vol. 17, pS17-S17, 1p
Autor:
Bormans EMG; Department of Pediatric Neurology, Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen, The Netherlands., Schuurs-Hoeijmakers JHM; Department of Human Genetics, Radboud University Medical Centre, Expert Centre for PHTS, Radboud University Medical Centre, Nijmegen, the Netherlands., van Setten P; Department of Pediatric Endocrinology, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands., Hendricks LAJ; Department of Human Genetics, Radboud University Medical Centre, Expert Centre for PHTS, Radboud University Medical Centre, Nijmegen, the Netherlands.; Radboud University Medical Centre, Radboud Institute for Medical Innovation, Nijmegen, The Netherlands., Drissen MMCM; Department of Human Genetics, Radboud University Medical Centre, Expert Centre for PHTS, Radboud University Medical Centre, Nijmegen, the Netherlands.; Radboud University Medical Centre, Radboud Institute for Medical Innovation, Nijmegen, The Netherlands., Gotthardt M; Department of Medical Imaging, Nuclear Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands., Claahsen-van der Grinten HL; Department of Pediatric Endocrinology, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands., Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Centre, Expert Centre for PHTS, Radboud University Medical Centre, Nijmegen, the Netherlands.; Radboud University Medical Centre, Radboud Institute for Medical Innovation, Nijmegen, The Netherlands., Schieving JH; Department of Pediatric Neurology, Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen, The Netherlands.
Publikováno v:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Aug 08. Date of Electronic Publication: 2024 Aug 08.
Autor:
Drissen MMCM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Vos JR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Collado Camps E; Department of Tumour Immunology, Radboud University Medical Center, Nijmegen, the Netherlands., Schuurs-Hoeijmakers JHM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Schieving JH; Department of Paediatric Neurology, Radboud University Medical Center, Nijmegen, the Netherlands., Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: Nicoline.Hoogerbrugge@radboudumc.nl.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2024 Aug; Vol. 70, pp. 104960. Date of Electronic Publication: 2024 Jul 21.
Autor:
van Teunenbroek KC; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands. k.c.vanteunenbroek@prinsesmaximacentrum.nl., Mulder RL; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Ahout IML; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands., Bindels-de Heus KGCB; Department of Pediatrics, Erasmus Medical Center, Sophia Children's Hospital, Rotterdam, the Netherlands., Delsman-van Gelder CM; Department of Pediatrics and Neonatology, Máxima Medical Center, Veldhoven, the Netherlands., Galimont-Collen AFS; Department of Dermatology, Bravis Hospital, Roosendaal, the Netherlands., de Groot MAR; Emma Palliative Care Team, Emma Children's Hospital, Amsterdam University Medical Centre (UMC), Amsterdam, the Netherlands., Heitink-Polle KMJ; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Looijestijn J; Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., Mensink MO; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Mulder S; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands., Schieving JH; Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, the Netherlands., Schouten-van Meeteren AYN; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Verheijden JMA; Dutch Knowledge Centre for Children's Palliative Care, Utrecht, the Netherlands., Rippen H; Stichting Kind en Ziekenhuis, Utrecht, the Netherlands., Borggreve BCM; the Netherlands Comprehensive Cancer Organization (IKNL), Utrecht, the Netherlands., Kremer LCM; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centre (UMC), University of Amsterdam, Amsterdam, the Netherlands., Verhagen AAE; Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., Michiels EMC; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Publikováno v:
BMC palliative care [BMC Palliat Care] 2024 Mar 13; Vol. 23 (1), pp. 72. Date of Electronic Publication: 2024 Mar 13.
Autor:
Gehin C; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Lone MA; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland., Lee W; Department of Genetics and Development and.; Department Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA., Capolupo L; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Ho S; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Adeyemi AM; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada., Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands., Stegmann AP; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, Netherlands., López-Martín E; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Bermejo-Sánchez E; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Martínez-Delgado B; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Center of Functional Genomics, Berlin, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Gräfe D; Department of Pediatric Radiology, University Hospital Leipzig, Leipzig, Leipzig, Germany., Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland (CHI) at Temple Street, Dublin, Ireland.; UCD School of Medicine, Dublin, Ireland., Jones ER; Genuity Science, Cherrywood Business Park, Dublin, Ireland., Zamuner S; Institute of Physics, School of Basic Sciences, École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland., Abriata LA; Laboratory for Biomolecular Modeling and Protein Purification and Structure Facility, EPFL and Swiss Institute of Bioinformatics, Lausanne Switzerland., Kunnathully V; Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy., Moeller BE; Department of Biochemistry and Microbiology, University of Victoria, Victoria, Canada., Vocat A; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Rommelaere S; Global Health Institute, School of Life Sciences and., Bocquete JP; Global Health Institute, School of Life Sciences and., Ruchti E; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Limoni G; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Van Campenhoudt M; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Bourgeat S; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Henklein P; Berlin Institute of Health, Institut für Biochemie, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany., Gilissen C; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands., van Bon BW; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands., Pfundt R; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands., Willemsen MH; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands., Schieving JH; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Nijmegen, Netherlands., Leonardi E; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy., Soli F; Medical Genetics Department, APSS Trento, Trento, Italy., Murgia A; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy., Guo H; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Zhang Q; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Xia K; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Fagerberg CR; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Beier CP; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Larsen MJ; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Fernández-Álvarez P; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Xiong S; Fetal Medicine Unit and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China., Śmigiel R; Department of Family and Pediatric Nursing, Medical University, Wroclaw, Poland., López-González V; Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER-ISCIII, Murcia, Spain., Armengol L; Quantitative Genomic Medicine Laboratories, S.L., CSO & CEO, Esplugues del Llobregat, Barcelona, Catalunya, Spain., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Selicorni A; Department of Pediatrics, ASST Lariana Sant' Anna Hospital, San Fermo Della Battaglia, Como, Italy., Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Blyth M; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Foresterhill, Aberdeen, United Kingdom., Cooper NS; W Midlands Clinical Genetics Service, Birmingham Women's Hospital, Edgbaston Birmingham, United Kingdom., Wilson V; Northern Regional Genetics Laboratory, Newcastle upon Tyne, United Kingdom., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Herenger Y; Genetica AG, Humangenetisches Labor und Beratungsstelle, Zürich, Switzerland., Garde A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France., Bruel AL; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Tran Mau-Them F; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Maddocks AB; Department of Radiology at Columbia University Irving Medical Center, New York, New York, USA., Bain JM; Department of Neurology, Columbia University Irving Medical Center, New York Presbyterian Hospital, Columbia University Medical Center, New York, New York, USA., Bhat MA; Institute of Pharmacology and Toxicology University of Zürich, Zürich, Switzerland., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Kannu P; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Marwaha A; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada., Champaigne NL; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA., Friez MJ; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA., Richardson EB; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Gupta Y; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA., Lim TY; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA., Sanna-Cherchi S; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA., Lemaitre B; Global Health Institute, School of Life Sciences and., Yamaji T; Department of Biochemistry and Cell Biology, National Institute of Infectious Diseases, Tokyo, Japan., Hanada K; Department of Biochemistry and Cell Biology, National Institute of Infectious Diseases, Tokyo, Japan., Burke JE; Department of Biochemistry and Microbiology, University of Victoria, Victoria, Canada.; Department of Biochemistry and Molecular Biology, The University of British Columbia, Vancouver, British Columbia, Canada., Jakšić AM; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., McCabe BD; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., De Los Rios P; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Institute of Physics, School of Basic Sciences, École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland., Hornemann T; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland., D'Angelo G; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy.; Global Health Institute, School of Life Sciences and., Gennarino VA; Department of Genetics and Development and.; Department of Pediatrics.; Department of Neurology.; Columbia Stem Cell Initiative, and.; Initiative for Columbia Ataxia and Tremor, Columbia University Irving Medical Center, New York, New York, USA.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2023 May 15; Vol. 133 (10). Date of Electronic Publication: 2023 May 15.
Autor:
Krielen P; Department of Surgery, Radboud University Medical Center, Nijmegen, The Netherlands. pepijn.krielen@radboudumc.nl., Meeuwsen M; Department for Research in Learning and Education Radboudumc Health Academy, Radboud University Medical Center, Nijmegen, Nijmegen, The Netherlands., Tan ECTH; Department of Surgery, Radboud University Medical Center, Nijmegen, The Netherlands., Schieving JH; Department of Child Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., Ruijs AJEM; Department for Research in Learning and Education Radboudumc Health Academy, Radboud University Medical Center, Nijmegen, Nijmegen, The Netherlands., Scherpbier ND; Department of General Practice and Elderly Care Medicine, University Medical Center Groningen, Groningen, The Netherlands.
Publikováno v:
BMC medical education [BMC Med Educ] 2023 Feb 11; Vol. 23 (1), pp. 105. Date of Electronic Publication: 2023 Feb 11.
Autor:
Ferreira EA; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands; United for Metabolic Diseases, Amsterdam, The Netherlands., Veenvliet ARJ; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Engelke UFH; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Kluijtmans LAJ; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Huigen MCDG; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Hoegen B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Boer L; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., de Vries MC; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Leenders E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Cornelissen EAM; Department of Pediatric Nephrology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Schieving JH; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Rubio-Gozalbo ME; United for Metabolic Diseases, Amsterdam, The Netherlands; Department of Pediatrics, Maastricht University Medical Centre, Maastricht University, Maastricht, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht University, Maastricht, The Netherlands; GROW-School for Oncology and Developmental Biology, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, The Netherlands., Körver-Keularts IMLW; United for Metabolic Diseases, Amsterdam, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht University, Maastricht, The Netherlands., Marten LM; Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Centre Göttingen, University of Göttingen, Göttingen, Germany., Diegmann S; Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Centre Göttingen, University of Göttingen, Göttingen, Germany., Mourmans J; Department of Pediatrics, Deventer Ziekenhuis, Deventer, The Netherlands., Rennings AJM; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands; United for Metabolic Diseases, Amsterdam, The Netherlands; Department of Human Genetics, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Rodenburg RJ; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: Richard.Rodenburg@radboudumc.nl., Coene KLM; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Chemistry and Hematology, Elisabeth-TweeSteden Hospital, Tilburg, The Netherlands.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 125-134. Date of Electronic Publication: 2022 Nov 09.
Autor:
Schobers G; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Schieving JH; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.; Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Pennings M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Derks R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hofste T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Wijs I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Wieskamp N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van den Heuvel S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Galbany JC; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Nelen M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Willemsen MAAP; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.; Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. lisenka.vissers@radboudumc.nl.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands. lisenka.vissers@radboudumc.nl.
Publikováno v:
Genome medicine [Genome Med] 2022 Jun 17; Vol. 14 (1), pp. 66. Date of Electronic Publication: 2022 Jun 17.
Autor:
Nagy D; Institute of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University Linz, A-4020 Linz, Austria., Verheyen S; Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria., Wigby KM; Department of Pediatrics, University of California, San Diego, CA 92161, USA.; Rady Children's Hospital-San Diego, Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Borovikov A; Research Centre for Medical Genetics, 115478 Moscow, Russia., Sharkov A; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia., Slegesky V; Department of Pediatrics, Section of Clinical Genetics and Metabolism, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO 80045, USA., Larson A; Department of Pediatrics, Section of Clinical Genetics and Metabolism, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO 80045, USA., Fagerberg C; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.; Institute of Clinical Research, Faculty of Health Sciences, University of Southern Denmark, 5000 Odense, Denmark., Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.; Institute of Clinical Research, Faculty of Health Sciences, University of Southern Denmark, 5000 Odense, Denmark., Kibæk M; H C Andersen Children's Hospital, Odense University Hospital, 5000 Odense, Denmark., Bader I; Institute of Human Genetics, University Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, A-5020 Salzburg, Austria., Hernan R; Department of Pediatrics, Columbia University, Irving Medical Center, New York, NY 10032, USA., High FA; Division of Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Surgery, Boston Children's Hospital, Boston, MA 02115, USA., Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA., Schieving JH; Department of Pediatric Neurology, Radboud University Hospital Nijmegen, 6525 Nijmegen, The Netherlands., Behunova J; Institute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria., Smogavec M; Institute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria., Laccone F; Institute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria., Witsch-Baumgartner M; Division of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria., Zobel J; Department of Pediatrics, Division of General Pediatrics, Medical University of Graz, 8036 Graz, Austria., Duba HC; Institute of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University Linz, A-4020 Linz, Austria., Weis D; Institute of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University Linz, A-4020 Linz, Austria.
Publikováno v:
Genes [Genes (Basel)] 2022 Jan 15; Vol. 13 (1). Date of Electronic Publication: 2022 Jan 15.