المؤلفون: Patricia Pascual, Jair Tenorio-Castano, Cyril Mignot, Alexandra Afenjar, Pedro Arias, Natalia Gallego-Zazo, Alejandro Parra, Lucia Miranda, Mario Cazalla, Cristina Silván, Delphine Heron, Boris Keren, Ioana Popa, María Palomares, Emi Rikeros, Feliciano J. Ramos, Berta Almoguera, Carmen Ayuso, Saoud Tahsin Swafiri, Ana Isabel Sánchez Barbero, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Manuela Morleo, Vicenzo Nigro, Stefano D’Arrigo, Claudia Ciaccio, Carmen Martin Mesa, Beatriz Paumard, Gema Guillen, Ana Teresa Serrano Anton, Marta Domínguez Jimenez, Veronica Seidel, Julia Suárez, Valerie Cormier-Daire, The SOGRI Consortium, Julián Nevado, Pablo Lapunzina

المصدر: Genes, Vol 14, Iss 9, p 1664 (2023)

مصطلحات موضوعية: CHD3, Snijders Blok–Campeau syndrome, overgrowth, neurodevelopmental disorders, SNIBCPS, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/9/1664; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/ed785606f81a4f49a60d1afaeac57fc8

المؤلفون: Elke de Boer, Burcu Yaldiz, Anne-Sophie Denommé-Pichon, Leslie Matalonga, Steve Laurie, Wouter Steyaert, Rick de Reuver, Christian Gilissen, Michael Kwint, Rolph Pfundt, Alain Verloes, Michèl A.A.P. Willemsen, Bert B.A. de Vries, A. Vitobello, Tjitske Kleefstra, Lisenka E.L.M. Vissers, Enzo Cohen, Isabel Cuesta, Daniel Danis, Fei Gao, Rita Horvath, Mridul Johari, Lennart Johanson, Shuang Li, Heba Morsy, Isabelle Nelson, Ida Paramonov, Iris B.A.W. te Paske, Peter Robinson, Marco Savarese, Ana Töpf, Aurélien Trimouille, Joeri K. van der Velde, Jana Vandrovcova, Antonio Vitobello, Birte Zurek, Kristin M. Abbot, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Kornelia Ellwanger, Laurence Faivre, Holm Graessner, Tobias B. Haack, Anna Hammarsjö, Marketa Havlovicova, Alexander Hoischen, Anne Hugon, Adam Jackson, Mieke Kerstjens, Anna Lindstrand, Estrella López Martín, Milan Macek, Isabelle Maystadt, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Michele Pinelli, Simone Pizzi, Manuel Posada, Francesca C. Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Gijs W.E. Santen, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Lisenka Vissers, Pavel Votypka, Klea Vyshka, Kristina Zguro

المساهمون: Dutch Research Council (Holanda), Unión Europea. Comisión Europea. H2020, Netherlands Organisation for Health Research and Development, de Boer, E., Yaldiz, B., Denomme-Pichon, A. -S., Matalonga, L., Laurie, S., Steyaert, W., de Reuver, R., Gilissen, C., Kwint, M., Pfundt, R., Verloes, A., Willemsen, M. A. A. P., de Vries, B. B. A., Vitobello, A., Kleefstra, T., Vissers, L. E. L. M., Nigro, V., Torella, A., Banfi, S.

المصدر: European Journal of Medical Genetics, 65(1). ELSEVIER
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 1

مصطلحات موضوعية: Proband, Exome sequencing, Adolescent, Developmental Disabilities, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Mutation, Missense, Computational biology, Biology, Genome, Exon, All institutes and research themes of the Radboud University Medical Center, Tubulin, Intellectual Disability, Solve-RD, Exome Sequencing, Genetics, Coding region, Missense mutation, Humans, TUBB3, Gene, Genetics (clinical), Sequence (medicine), Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], ERN ITHACA, Brain, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Genome-wide variant calling, Strabismus, Face, Microcephaly, Female

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04ccb6aa76dc6f5b62a530f310d30c92
https://pubmed.ncbi.nlm.nih.gov/34863918

المؤلفون: de Boer, Elke, Ockeloen, Charlotte W., Matalonga, Leslie, Horvath, Rita, Cohen, Enzo, Nelson, Isabelle, Rodenburg, Richard J., Coenen, Marieke J. H., Janssen, Mirian, Henssen, Dylan, Gilissen, Christian, Steyaert, Wouter, Paramonov, Ida, Trimouille, Aurelien, Kleefstra, Tjitske, Verloes, Alain, Vissers, Lisenka E. L. M.

المساهمون: Radboud University Medical Center [Nijmegen], Institute of Environmental Science and Technology [Barcelona] (ICTA), Universitat Autònoma de Barcelona (UAB), University of Cambridge [UK] (CAM), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux [Bordeaux], Hôpital Robert Debré, Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Leslie Matalonga, Isabelle Nelson, Sophia Peters, Ida Paramonov, Sivakumar Prasanth, Peter Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Ana Töpf, Joeri K van der Velde, Antonio Vitobello, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Elke de Boer, Laurence Faivre, Tobias B Haack, Anna Hammarsjö, Marketa Havlovicova, Alexander Hoischen, Anne Hugon, Adam Jackson, Tjitske Kleefstra, Anna Lindstrand, Estrella López-Martín, Milan Macek Jr, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Michele Pinelli, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Alain Verloes, Lisenka Vissers, Klea Vyshka, Birte Zurek, Admin, Oskar, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, 2021, 29 (9), pp.1470-1471. ⟨10.1038/s41431-021-00937-3⟩
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (9), pp.1470-1471. ⟨10.1038/s41431-021-00937-3⟩

مصطلحات موضوعية: [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3a2610e7c57e6cd92ff7daa4c334b93e
http://hdl.handle.net/20.500.12278/112877