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1دورية أكاديمية
المؤلفون: Gerard Pals, Yvonne Hilhorst-Hofstee, Annelies E van der Hulst, Regina Bökenkamp, Nicolaas A Blom, Elroy van Elsäcker, Arja S Vink, Leonie A Menke, Ad C P M Backx
المصدر: Open Heart, Vol 9, Iss 2 (2022)
مصطلحات موضوعية: Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Alina Ilie, Andy Y.L. Gao, Annie Boucher, Jaeok Park, Albert M. Berghuis, Mariëtte J.V. Hoffer, Yvonne Hilhorst-Hofstee, R. Anne McKinney, John Orlowski
المصدر: Neurobiology of Disease, Vol 121, Iss , Pp 187-204 (2019)
مصطلحات موضوعية: Christianson Syndrome, X-linked intellectual disability, Alkali cation/proton exchangers –SLC9A6/NHE6, Endosomal pH homeostasis, Membrane trafficking, Neurodegeneration, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996118303048Test; https://doaj.org/toc/1095-953XTest
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3دورية أكاديمية
المؤلفون: Tom E. J. Theunissen, Minh Nguyen, Rick Kamps, Alexandra T. Hendrickx, Suzanne C. E. H. Sallevelt, Ralph W. H. Gottschalk, Chantal M. Calis, Alphons P. M. Stassen, Bart de Koning, Elvira N. M. Mulder-Den Hartog, Kees Schoonderwoerd, Sabine A. Fuchs, Yvonne Hilhorst-Hofstee, Marianne de Visser, Jo Vanoevelen, Radek Szklarczyk, Mike Gerards, Irenaeus F. M. de Coo, Debby M. E. I. Hellebrekers, Hubert J. M. Smeets
المصدر: Frontiers in Genetics, Vol 9 (2018)
مصطلحات موضوعية: mitochondrial disease, next-generation sequencing, mtDNA sequencing, whole-exome sequencing, diagnostic yield, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2018.00400/fullTest; https://doaj.org/toc/1664-8021Test
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4دورية أكاديمية
المؤلفون: Camille Kumps, Belinda Campos-Xavier, Yvonne Hilhorst-Hofstee, Carlo Marcelis, Marius Kraenzlin, Nicole Fleischer, Sheila Unger, Andrea Superti-Furga
المصدر: Genes, Vol 11, Iss 4, p 420 (2020)
مصطلحات موضوعية: Ehlers–Danlos syndrome, SLC39A13, dysmorphology, short stature, connective tissue, DeepGestalt technology, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Teodora Radonic, Piet de Witte, Maarten Groenink, Vivian de Waard, Rene Lutter, Marco van Eijk, Marnix Jansen, Janneke Timmermans, Marlies Kempers, Arthur J Scholte, Yvonne Hilhorst-Hofstee, Maarten P van den Berg, J Peter van Tintelen, Gerard Pals, Marieke J H Baars, Barbara J M Mulder, Aeilko H Zwinderman
المصدر: PLoS ONE, Vol 7, Iss 3, p e32963 (2012)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3316543?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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المؤلفون: Lisa M. van den Bersselaar, Judith M.A. Verhagen, Jos A. Bekkers, Marlies Kempers, Arjan C. Houweling, Marieke Baars, Eline Overwater, Yvonne Hilhorst-Hofstee, Daniela Q.C.M. Barge-Schaapveld, Eline Rompen, Ingrid P.C. Krapels, Eelco Dulfer, Marja W. Wessels, Bart L. Loeys, Hence J.M. Verhagen, Alessandra Maugeri, Jolien W. Roos-Hesselink, Hennie T. Brüggenwirth, Ingrid M.B.H. van de Laar
المساهمون: Human genetics, ACS - Atherosclerosis & ischemic syndromes, CCA - Cancer Treatment and quality of life, CCA - Cancer biology and immunology, MUMC+: DA KG Polikliniek (9), RS: Carim - H02 Cardiomyopathy, Clinical Genetics, Cardiothoracic Surgery, Erasmus MC other, Surgery, Cardiology, Human Genetics, ACS - Amsterdam Cardiovascular Sciences, Graduate School, ACS - Heart failure & arrhythmias, ARD - Amsterdam Reproduction and Development
المصدر: Genetics in medicine
Genetics in Medicine, 24(10), 2112-2122. Lippincott Williams and Wilkins
Genetics in Medicine, 24, 2112-2122
Genetics in Medicine, 24(10), 2112-2122. Nature Publishing Group
Genetics in Medicine, 24(10), 2112-2122. ELSEVIER SCIENCE INC
Genetics in Medicine, 24(10), 2112-2122. Lippincott Williams & Wilkins
Genetics in Medicine, 24, 10, pp. 2112-2122
van den Bersselaar, L M, Verhagen, J M A, Bekkers, J A, Kempers, M, Houweling, A C, Baars, M, Overwater, E, Hilhorst-Hofstee, Y, Barge-Schaapveld, D Q C M, Rompen, E, Krapels, I P C, Dulfer, E, Wessels, M W, Loeys, B L, Verhagen, H J M, Maugeri, A, Roos-Hesselink, J W, Brüggenwirth, H T & van de Laar, I M B H 2022, ' Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort ', Genetics in Medicine, vol. 24, no. 10, pp. 2112-2122 . https://doi.org/10.1016/j.gim.2022.07.009Test
Genetics in medicine, 24(10), 2112-2122. Lippincott Williams and Wilkinsمصطلحات موضوعية: Adult, Male, THORACIC AORTIC-ANEURYSMS, ACTA2 MUTATION, Smooth muscle α-actin, Aortic dissection, AMERICAN-COLLEGE, DISEASE, Cohort Studies, All institutes and research themes of the Radboud University Medical Center, Thoracic aortic aneurysm, Humans, CARDIOVASCULAR-ANGIOGRAPHY, INTERVENTIONAL-RADIOLOGY, ASSOCIATION TASK-FORCE, DISSECTION, Smooth muscle alpha-actin, Aorta, Genetics (clinical), Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], INTERNATIONAL REGISTRY, Aortic Aneurysm, Thoracic, Middle Aged, Actins, PRACTICE GUIDELINES, Mutation, Human medicine
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2e29662a4a12709af79c372e156311dTest
https://pure.eur.nl/en/publications/f9755570-5ef0-41b5-bdb1-bd3ba057c2f1Test -
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المؤلفون: Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan G Karimiani, Anna Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrosio Fock, Christian Beetz, Claudia A L Ruivenkamp, Alison J Eaton, Francois D Morneau-Jacob, Lena Sagi-Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad-Halloun, Daan J Kamphuis, Cacha M P C D Peeters-Scholte, Semra Hiz Kurul, Rita Horvath, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M Muir, Aboulfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna S Povolotskaya, Victoria Y Voinova, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Fowzan S Alkuraya, Heather C Mefford, Majid Alfadhel, Tobias B Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst-Hofstee, Henry Houlden
المساهمون: Neurology, Clinical Genetics, Department of Medical and Clinical Genetics, University of Helsinki, Medicum, HUSLAB, Department of Pathology
المصدر: Brain, 145(7), 2301-2312. OXFORD UNIV PRESS
Brain, 145(7), 2301-2312. Oxford University Pressمصطلحات موضوعية: Brain Diseases, Drug Resistant Epilepsy, CYSTIC-FIBROSIS, GENES, LEUCINE-RICH, 3112 Neurosciences, ADAM22, Intracellular Signaling Peptides and Proteins, PROTEIN, Nerve Tissue Proteins, PHENOTYPE, 3124 Neurology and psychiatry, refractory seizures, ADAM Proteins, Humans, SEIZURES, LGI1, LIMBIC ENCEPHALITIS, Neurology (clinical), developmental and epileptic encephalopathy, Atrophy, Epilèpsia en els infants, Disks Large Homolog 4 Protein
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a2378a027a1f91cd1deec43f224121eTest
https://doi.org/10.1093/brain/awac116Test -
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المؤلفون: Peter Lauffer, Gerard Pals, Aeilko H. Zwinderman, Floor A. M. Postema, Marieke J. H. Baars, Eelco Dulfer, Yvonne Hilhorst‐Hofstee, Arjan C. Houweling, Marlies Kempers, Ingrid P. C. Krapels, Ingrid M. B. H. van de Laar, Bart Loeys, Alexander M. J. Spaans, Jessica Warnink‐Kavelaars, Vivian de Waard, Jan M. Wit, Leonie A. Menke
المساهمون: Graduate School, Paediatric Pulmonology, Paediatric Endocrinology, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, General Paediatrics, Human Genetics, ACS - Amsterdam Cardiovascular Sciences, Rehabilitation medicine, AMS - Rehabilitation & Development, ARD - Amsterdam Reproduction and Development, Medical Biochemistry, ACS - Atherosclerosis & ischemic syndromes, AII - Inflammatory diseases, ANS - Complex Trait Genetics, Clinical Genetics, MUMC+: DA KG Polikliniek (9), RS: Carim - H02 Cardiomyopathy, Pediatrics, Human genetics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Epidemiology and Data Science, APH - Methodology, Amsterdam Cardiovascular Sciences, Medical Biology, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Complex Trait Genetics
المصدر: American journal of medical genetics. Part A, 191(2), 479-489. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 191, 2, pp. 479-489
The American Journal of Medical Genetics-Part A, 191(2), 479-489. WILEY
American Journal of Medical Genetics, Part A, 191(2), 479-489. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 191(2), 479-489. Wiley
American Journal of Medical Genetics. Part A, 191, 479-489
American journal of medical genetics : part A
American Journal of Medical Genetics, Part A, 191(2). Wiley
American journal of medical genetics. Part A. Wiley-Liss Inc.
Lauffer, P, Pals, G, Zwinderman, A H, Postema, F A M, Baars, M J H, Dulfer, E, Hilhorst-Hofstee, Y, Houweling, A C, Kempers, M, Krapels, I P C, van de Laar, I M B H, Loeys, B, Spaans, A M J, Warnink-Kavelaars, J, de Waard, V, Wit, J M & Menke, L A 2023, ' Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships ', American Journal of Medical Genetics, Part A, vol. 191, no. 2, pp. 479-489 . https://doi.org/10.1002/ajmg.a.63047Testمصطلحات موضوعية: Marfan syndrome, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], haploinsufficiency variant, Genetics, weight, Human medicine, dominant-negative variant, growth charts, Genetics (clinical), height
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf63bc3c8b0e7ba50b2144750c962866Test
https://doi.org/10.1002/ajmg.a.63047Test -
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المؤلفون: Kosuke Mochida, Anne Slavotinek, Roberto Mendoza-Londono, Parul Jayakar, Kiyoshi Kikkawa, Luis E. Figuera, Andreas R. Janecke, Hiroko Morisaki, Takaya Nakane, Nicol C. Voermans, Delfien Syx, Tetsuyuki Kobayashi, Tomoko Kobayashi, Toshihiro Ohura, Klaas J. Wierenga, Tomomi Yamaguchi, Takayuki Morisaki, Mari Minatogawa, Michihiro Kono, William A. Gahl, Judith D. Ranells, Ai Unzaki, Tomoki Kosho, Cynthia J. Tifft, Yoko Aoki, Masumi Ishikawa, Ohsuke Migita, Akiharu Kubo, Naomichi Matsumoto, Fransiska Malfait, Chiho Tokorodani, Yves Lacassie, Tohru Sonoda, Yvonne Hilhorst-Hofstee, Alessandra Maugeri, Glenda Sobey, Noriko Miyake, Ken Ishikawa, Anupriya Kaur, Hiroshi Kawame
المساهمون: Human genetics, ACS - Atherosclerosis & ischemic syndromes
المصدر: Journal of Medical Genetics, 59, 9, pp. 865-877
Journal of Medical Genetics, 59, 865-877
Journal of Medical Genetics, 59(9), 865-877. BMJ Publishing Group
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Minatogawa, M, Unzaki, A, Morisaki, H, Syx, D, Sonoda, T, Janecke, A R, Slavotinek, A, Voermans, N C, Lacassie, Y, Mendoza-Londono, R, Wierenga, K J, Jayakar, P, Gahl, W A, Tifft, C J, Figuera, L E, Hilhorst-Hofstee, Y, Maugeri, A, Ishikawa, K, Kobayashi, T, Aoki, Y, Ohura, T, Kawame, H, Kono, M, Mochida, K, Tokorodani, C, Kikkawa, K, Morisaki, T, Kobayashi, T, Nakane, T, Kubo, A, Ranells, J D, Migita, O, Sobey, G, Kaur, A, Ishikawa, M, Yamaguchi, T, Matsumoto, N, Malfait, F, Miyake, N & Kosho, T 2022, ' Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) ', Journal of Medical Genetics, vol. 59, no. 9, pp. 865-877 . https://doi.org/10.1136/jmedgenet-2020-107623Testمصطلحات موضوعية: Joint hypermobility, medicine.medical_specialty, Acrogeria, business.industry, human genetics, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Dermatology, Hypotonia, musculoskeletal diseases, Ehlers–Danlos syndrome, Genetics, medicine, Joint dislocation, Craniofacial, medicine.symptom, Hypertelorism, Palmar crease, business, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58d298fb5f42a456694aa45a947844ecTest
https://hdl.handle.net/2066/287515Test -
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المؤلفون: Ashley N. Sigafoos, Salima El Chehadeh, Marcia C. Willing, Ela Akay, Florian Cherik, Anne-Marie E. Goyette, Vinodh Narayanan, Diane Masser-Frye, Catherine Karimov, Rhonda E. Schnur, Rebekah Bressi, Rhys H. Thomas, Gary D. Clark, Tina Barbaro-Dieber, Jill A. Rosenfeld, Carlos A. Bacino, Maria J. Guillen Sacoto, Laura Russell, Kristin Lindstrom, Caroline Schluth-Bolard, Xia Wang, Yvonne Hilhorst-Hofstee, Marcelo Vargas, Zehua Zhu, Ash Zawerton, Boris Keren, Mariëtte J.V. Hoffer, Isabelle Marey, Alice Poisson, Daphné Lehalle, Maries Joseph, Gaetan Lesca, Simon Zwolinski, Laurence Perrin, Rhoda Akilapa, Emilia K. Bijlsma, Christel Depienne, Amélie Piton, Claire G. Salter, Lucie Dupuis, Daryl A. Scott, Jolien S. Klein Wassink-Ruiter, Benjamin Cogné, Mathilde Nizon, Richard Chang, Kirsty McWalter, Myriam Srour, Perrine Charles, Anne-Claude Tabet, Natalie Canham, Sylvie Odent, Caroline Nava, Karl J. Clark, Elizabeth J. Bhoj, Jonathan Levy, Keri Ramsey, Yves Alembik, Lucia Ortega, Sophie Dupuis-Girod, Shoji Ichikawa, Christine Francannet, Marta Bertoli, Christèle Dubourg, Eric W. Klee, Ange-Line Bruel, Sebastien Moutton, Emily Fassi, Anthony Vandersteen, Abdul Haseeb, Antonina Wojcik, Patrick R. Blackburn, Lynne M. Bird, Patrick Rump, Véronique Lefebvre, Alma Kuechler, Sophie Nambot, Keren Machol, Cyril Mignot, Andreas Hartmann, Rossana Sanchez Russo, Erica H. Gerkes, Sylvie Jaillard, Roberto Mendoza-Londono, Trevor Cole, Pauline Monin
المساهمون: Cleveland Clinic, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), Centre d'Etude et de Recherche Multimodal Et Pluridisciplinaire en imagerie du vivant (CERMEP - imagerie du vivant), Université de Lyon-Université de Lyon-CHU Grenoble-Hospices Civils de Lyon (HCL)-CHU Saint-Etienne-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Institut de recherche en santé, environnement et travail (Irset), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA), Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Health Sciences Research [Mayo Clinic] (HSR), Mayo Clinic, This research was funded in part by the Agence Nationale de la Recherche and European High-Functioning Autism Network (ANR EUHFAUTISM), the Assistance Publique–Hôpitaux de Paris (AP-HP), the Institut National de la Santé et de la Recherche Médicale (INSERM), the BioPsy labex (to Christel Depienne and C.N.) and the Association Française du Syndrome Gilles de la Tourette (AFSGT) to Christel Depienne. It was also funded by the Cleveland Clinic Lerner Research Institute (LRI Chair’s Innovative Research Award to V.L.), and by Harper’s Quest and the LAMSHF Syndrome Research Fund (donations to V.L.) and the Center for Individualized Medicine, Mayo Clinic. This study makes use of data generated by the DECIPHER community and the Deciphering Developmental Disorders (DDD) Study, which is funded by the Wellcome Trust. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between Wellcome and the Department of Health, and the Wellcome Sanger Institute (grant number WT098051). The views expressed in this publication are those of the author(s) and not necessarily those of Wellcome or the Department of Health. The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12 granted by the Republic of Ireland REC). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network., We thank the patients and their families for their participation in this study, and the C4RCD Research Group (Newell Belnap, Amanda Courtright, Ana Claasen, David Craig, Matt Huentelman, Madison LaFleur, Sampathkumar Rangasamy, Ryan Richholt, Isabelle Schrauwen, Ashley L. Siniard, and Szabolics Szelinger) for providing clinical information on patient P18., Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique et Cytogénétique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Centre d'Exploration et de Recherche Médicales par Émission de Positons (CERMEP), Université Joseph Fourier - Grenoble 1 (UJF)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-CHU Grenoble-Hospices Civils de Lyon (HCL)-CHU Saint-Etienne-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
المصدر: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.524-537. ⟨10.1038/s41436-019-0657-0⟩
Genetics in medicine : official journal of the American College of Medical Genetics, vol 22, iss 3
Genetics in Medicine, 22(3), 524-537. Nature Publishing Group
Genet Med
Genetics in Medicine, 22(3), 524-537. NATURE PUBLISHING GROUPمصطلحات موضوعية: Male, Medizin, Haploinsufficiency, L-SOX5, VARIANTS, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, Missense mutation, 2.1 Biological and endogenous factors, Aetiology, Child, Genetics (clinical), Genetics, Pediatric, Genetics & Heredity, 0303 health sciences, Pedigree, FAMILY, DNA-Binding Proteins, developmental delay, TRANSCRIPTION FACTORS, Phenotype, intellectual disability, Child, Preschool, missense variants, Female, SOXD Transcription Factors, Adult, EXPRESSION, Adolescent, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Mutation, Missense, autism, Cell fate determination, Biology, LONG FORM, SEQUENCE, Article, 03 medical and health sciences, Young Adult, Rare Diseases, Clinical Research, CARTILAGE, Intellectual Disability, medicine, Animals, Humans, Language Development Disorders, Genetic Predisposition to Disease, Preschool, Transcription factor, Gene, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, MUTATIONS, Human Genome, Infant, medicine.disease, Brain Disorders, Neurodevelopmental Disorders, Deciphering Developmental Disorder Study, Mutation, Autism, epilepsy, Missense, 030217 neurology & neurosurgery, GENERATION
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e572914cd3ed1c6195ff6874c9228a5aTest
https://doi.org/10.1038/s41436-019-0657-0Test