Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Fagerberg CR"'
Autor:
Tibbe D, Wang E, Woike D, Igor L. Barsukov, Larsen M, Hassani Nia F, Kibaek M, Hans-Jürgen Kreienkamp, Fagerberg Cr
Shank proteins are major scaffolds of the postsynaptic density of excitatory synapses. Mutations inSHANKgenes are associated with autism and intellectual disability. The relevance of missense mutations for these pathologies is unclear. Several missen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61b4e98540ee5c609ddf06fcd1c8c999
https://doi.org/10.1101/2021.04.13.439653
https://doi.org/10.1101/2021.04.13.439653
Autor:
Twigg, SRF, Ousager, LO, Miller, KA, Zhou, Y, Elalaoui, SC, Sefiani, A, Bak, GC, Hove, H, Hansen, LK, Fagerberg, CR, Tajir, M, Wilkie, AOM
Publikováno v:
Twigg, S R F, Ousager, L B, Miller, K A, Zhou, Y, Elalaoui, S C, Sefiani, A, Bak, G S, Hove, H, Kjærsgaard Hansen, L, Fagerberg, C R, Tajir, M & Wilkie, A O M 2016, ' Acromelic frontonasal dysostosis and ZSWIM6 mutation : phenotypic spectrum and mosaicism ', Clinical Genetics, vol. 90, no. 3, pp. 270-275 . https://doi.org/10.1111/cge.12721
Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. A single recurrent heterozygous missense substitution in ZSWIM6, encoding a protein of unknown
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0e115c64ceb5604ddbc07e0398227e65
https://findresearcher.sdu.dk:8443/ws/files/121727930/Twigg_et_al_2016_Clinical_Genetics.pdf
https://findresearcher.sdu.dk:8443/ws/files/121727930/Twigg_et_al_2016_Clinical_Genetics.pdf
Publikováno v:
Scandinavian Journal of Primary Health Care. 10/28/99, Vol. 17 Issue 3, p149-152. 4p.
Autor:
Laurent Pasquier, Anne V. Snow, David T. Miller, Louise Harewood, Christina Triantafallou, Timothy P.L. Roberts, Leighton B. Hinkley, Zili Chu, Louis Vallée, Alyss Lian Cavanagh, Evica Rajcan-Separovic, Patricia Blanchet, Fiona Miller, Robin P. Goin-Kochel, Beau Reilly, Bettina Cerban, Vanessa Siffredi, Bridget A. Fernandez, Roger Vaughan, Brianna M. Paul, Fanny Morice-Picard, Elisabeth Flori, Dominique Campion, Gérard Didelot, Anne Philippe, Christa Lese Martin, Srikantan S. Nagarajan, Joris Andrieux, Jacques Puechberty, Marie Pierre Cordier, Jill V. Hunter, Ellen van Binsbergen, Catherine Vincent-Delorme, Vivek Swarnakar, Jean Marie Cuisset, Monica Proud, Patrick Callier, Bert B.A. de Vries, Jeffrey I. Berman, Sarah J. Spence, Alexandra Bowe, Wendy K. Chung, Katy Ankenman, Katherine Hines, Sarah E. Gobuty, Philippe Jonveaux, Lisa Blaskey, Alice Goldenberg, Sylvie Jaillard, Alessandra Renieri, Anne M. Maillard, Tracy Luks, Lee Anne Green Snyder, Elliott H. Sherr, Sarah Y. Khan, Fabienne Prieur, Simon A. Zwolinski, Andres Metspalu, Ghislaine Plessis, Jean Chiesa, Rita J. Jeremy, Valérie Malan, Michèle Mathieu-Dramard, Loyse Hippolyte, Bethanny Smith-Packard, Andrea M. Paal, Bénédicte Duban Bedu, Claudine Rieubland, Jordan Burko, Sylvie Joriot, Philippe Conus, Dominique Bonneau, Benoit Arveiler, Nicole de Leeuw, Allison G. Dempsey, John E. Spiro, Julia Wenegrat, Bertrand Isidor, Cédric Le Caignec, Kyle J. Steinman, Bruno Delobel, Ashlie Llorens, Jacques S. Beckmann, Kelly Johnson, Sean Ackerman, Polina Bukshpun, Silvia Garza, Alexandre Reymond, Damien Sanlaville, Ellen Hanson, Martine Doco-Fenzy, Jacques Thonney, Mari Wakahiro, Juliane Hoyer, Jacqueline Vigneron, Katrin Õunap, Arthur L. Beaudet, Mandy Barker, Nicole Visyak, Sonia Bouquillon, W. Andrew Faucett, Raphael Bernier, Sudha Kilaru Kessler, Audrey Lynn Bibb, Dennis Shaw, R. Frank Kooy, Suzanne M E Lewis, Anna L. Laakman, Nicholas J. Pojman, Hubert Journel, Laura Bernardini, Arianne Stevens, Julia P. Owen, Rebecca Mc Nally Keehn, Stéphanie Selmoni, Sébastien Lebon, Aurélien Macé, Bruno Leheup, Saba Qasmieh, Zoltán Kutalik, Anita Rauch, Yiping Shen, Elysa J. Marco, Nathalie Van der Aa, Carina Ferrari, Noam D. Beckmann, Delphine Héron, Jennifer Tjernage, Benjamin Aaronson, Albert David, Marie Pierre Lemaitre, Muriel Holder, Eve Õiglane-Shlik, Anneke T. Vulto-van Silfhout, Flore Zufferey, Constance Atwell, Marta Benedetti, Ellen Grant, Jenna Elgin, Patricia Z. Page, Caroline Rooryck, Randy L. Buckner, Qixuan Chen, Laurence Faivre, Sébastien Jacquemont, Kerri P. Nowell, Florence Fellmann, Disciglio Vittoria, Katharina Magdalena Rötzer, Hana Lee, Alastair J. Martin, Marion Greenup, David H. Ledbetter, Katrin Männik, Morgan W. Lasala, Jennifer Gerdts, Hanalore Alupay, Florence Petit, Elizabeth Aylward, Gerald D. Fischbach, Mafalda Mucciolo, Maxwell Cheong, Gabriela Marzano, Frédérique Béna, Danielle Martinet, Timothy J. Moss, Odile Boute, Jennifer Olson, Marco Belfiore, Christina Fagerberg, Corby L. Dale, Robert M. Witwicki, Yolanda L. Evans, Melissa B. Ramocki, Marie-Claude Addor, Christèle Dubourg, Mariken Ruiter, Tuhin K. Sinha, Mieke M. van Haelst, Alan Packer, Kathleen E. McGovern, Christie M. Brewton, Stephen M. Kanne, Richard I. Fisher, Tracey Ward, Sophie Dupuis-Girod, Pratik Mukherjee
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Journal of medical genetics, 49(10), 660-668. BMJ Publishing Group
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of Medical Genetics, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of medical genetics
JOURNAL OF MEDICAL GENETICS
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Journal of medical genetics, 49(10), 660-668. BMJ Publishing Group
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of Medical Genetics, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of medical genetics
JOURNAL OF MEDICAL GENETICS
Background The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. Objective To define the medical, neuropsychological, and beha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ea30c8d8ed101ea6de6cdb0eddb7b91
http://europepmc.org/articles/PMC3494011
http://europepmc.org/articles/PMC3494011
Autor:
Miceikaitė I; University of Southern Denmark, Odense, Denmark ieva.miceikaite@gmail.com., Hao Q; Odense University Hospital, Odense, Denmark., Brasch-Andersen C; Odense University Hospital, Odense, Denmark., Fagerberg CR; Odense University Hospital, Odense, Denmark., Torring PM; Odense University Hospital, Odense, Denmark., Kristiansen BS; Odense University Hospital, Odense, Denmark., Ousager LB; University of Southern Denmark, Odense, Denmark., Sperling L; Odense University Hospital, Odense, Denmark., Ibsen MH; University Hospital of Southwestern Jutland, Esbjerg, Denmark., Löser K; Hospital of Southern Jutland, Aabenraa, Denmark., Larsen MJ; University of Southern Denmark, Odense, Denmark.
Publikováno v:
The New England journal of medicine [N Engl J Med] 2023 Nov 23; Vol. 389 (21), pp. 2017-2019.
Autor:
Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. Henry.oppermann@medizin.uni-leipzig.de., Marcos-Grañeda E; Department of Cellular and Molecular Biology, Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain., Weiss LA; Department of Cellular and Molecular Biology, Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain., Gurnett CA; Department of Neurology, Washington University in St Louis, St Louis, MO, USA., Jelsig AM; Dpt. of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark., Vineke SH; Dpt. of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark., Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes, France., Mercier S; Service de Génétique Médicale, CHU de Nantes, Nantes, France.; L'institut du thorax, Inserm, Cnrs, Univ Nantes, Nantes, France., Magnussen K; Randall Children's Hospital at Legacy Emanuel, Portland, OR, USA., Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany., Hashim M; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Race S; BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Frazier Z; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Maiwald R; MVZ for Coagulation Diagnostics and Medical Genetics Cologne, ÜBAG Zotz/Klimas, Cologne, Germany., Pergande M; MVZ Düsseldorf Zentrum, ÜBAG Zotz/Klimas, Düsseldorf, Germany., Milani D; Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milan, Italy., Rinelli M; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Levy J; Genetics Department, CHU Robert-Debré, AP-HP, Paris, France., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Fontana P; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy., Lonardo F; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy., Riley S; Department of Pediatrics, University of Maryland School of Medicine, Baltimore, MD, USA., Kretzer J; Department of Pediatrics, University of Maryland School of Medicine, Baltimore, MD, USA., Rankin J; Department of Clinical Genetics, Royal Devon University Healthcare NHS Trust, Exeter, UK., Reis LM; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI, USA., Semina EV; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI, USA., Reuter MS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Iascone M; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy., Weis D; Department of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University, Linz, Austria., Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Hansen LK; HC Andersen Childrens Hospital, Odense University Hospital, Odense, Denmark., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Noble N; Blank Children's Developmental Center, Unity Point Health, Des Moines, IA, USA., Gardham A; North West Thames Regional Genetic Service, North West London Hospitals, London, UK., Tenney J; Division of Medical Genetics, University of California, San Francisco, CA, USA., Rathore G; Dvision of Pediatric Neurology, University of Nebraska Medical Center, Omaha, NE, USA., Beck-Woedl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Pavlidou DC; Division of Genetic Medicine, Lausanne Universitary Hospital and University of Lausanne, Lausanne, Switzerland., Atallah I; Division of Genetic Medicine, Lausanne Universitary Hospital and University of Lausanne, Lausanne, Switzerland., Vodopiutz J; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.; Vienna Bone and Growth Center, Vienna, Austria., Janecke AR; Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Lesmann H; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Institut für Humangenetik, Universitätsklinikum Bonn, Universität Bonn, Bonn, Germany., Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Institute for Medical Biometry, Informatics and Epidemiology, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Nieto M; Department of Cellular and Molecular Biology, Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain. mnlopez@cnb.csic.es., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark. zeynep.tumer@regionh.dk.; Department of Clinical Medicin, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. zeynep.tumer@regionh.dk., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Nov; Vol. 31 (11), pp. 1251-1260. Date of Electronic Publication: 2023 Aug 30.
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:
Lester EB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Laulund LW; H. C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark., Illum N; H. C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark., Dunkhase-Heinl U; Department of Pediatrics, Hospital of Southern Jutland, Aabenraa, Denmark., Schrøder HD; Department of Pathology, Odense University Hospital, Odense, Denmark., Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark. Electronic address: christina.fagerberg@rsyd.dk.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2023 Mar; Vol. 66 (3), pp. 104706. Date of Electronic Publication: 2023 Jan 18.
Autor:
Sølyst S; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Oksjoki R; Department of Cardiology, Copenhagen University Hospital, Herlev-Gentofte and Rigshospitalet, Copenhagen, Denmark., Farholt S; Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark.; Center for Rare Diseases, Pediatric and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Nielsen DG; Department of Cardiology, Copenhagen University Hospital, Herlev-Gentofte and Rigshospitalet, Copenhagen, Denmark., Christensen AH; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Center for Rare Diseases, Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark., Fagerberg CR; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Risom L; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Gregersen PA; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Christensen MB; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Rasmussen TB; Department of Cardiology, Copenhagen University Hospital, Herlev-Gentofte and Rigshospitalet, Copenhagen, Denmark., Diness BR; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
Clinical genetics [Clin Genet] 2022 Sep; Vol. 102 (3), pp. 191-200. Date of Electronic Publication: 2022 Jul 04.
Autor:
Terkelsen T; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Illum N; H. C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark., Busa T; Département de Génétique Médicale, CHU de Marseille-Hôpital de la Timone, Marseille, France., Missirian C; Département de Génétique Médicale, CHU de Marseille-Hôpital de la Timone, Marseille, France., Chandler K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Holden ST; Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK., Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Affiliated Member of European Reference Network, ERN-ITHACA.
Publikováno v:
Clinical genetics [Clin Genet] 2022 Feb; Vol. 101 (2), pp. 208-213. Date of Electronic Publication: 2021 Nov 15.