المؤلفون: Vibert, Roseline, Mignot, Cyril, Keren, Boris, Chantot‐Bastaraud, Sandra, Portnoï, Marie‐France, Nouguès, Marie‐Christine, Moutard, Marie‐Laure, Faudet, Anne, Whalen, Sandra, Haye, Damien, Garel, Catherine, Chatron, Nicolas, Rossi, Massimiliano, Vincent‐Delorme, Catherine, Boute, Odile, Delobel, Bruno, Andrieux, Joris, Devillard, Françoise, Coutton, Charles, Puechberty, Jacques

المصدر: Clinical Genetics; Mar2022, Vol. 101 Issue 3, p307-316, 10p

مصطلحات موضوعية: CORPUS callosum, CHROMOSOMAL rearrangement, NEURAL development, DEVELOPMENTAL delay, INTELLECTUAL disabilities, FETUS

المؤلفون: Wentzel, Christian, Rajcan-Separovic, Evica, Ruivenkamp, Claudia, Chantot-Bastaraud, Sandra, Metay, Corinne, Andrieux, Joris, Annerén, Göran, Gijsbers, Antoinet, Druart, Luc, Hyon, Capucine, Portnoi, Marie-France, Stattin, Eva-Lena, Vincent-Delorme, Catherine, Kant, Sarina G, Steinraths, Michelle, Marlin, Sandrine, Giurgea, Irina, Thuresson, Ann Charlotte

المساهمون: Dept of Immunology, Genetics and Pathology, University of British Columbia (UBC), Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Henri Mondor Créteil, Hôpital Jeanne de Flandre Lille, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Umeå University, Sweden, Division of Medical Genetics,Victoria General Hospital, Victoria, BC, Funding agencySavstaholm SocietyBorgstrom FoundationFoundation Jerome LejeuneCanadian Institutes of Health Research (CIHR)Michael Smith Foundation for Health Research

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: 10p deletion, developmental delay, WAC, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21522184; hal-00636187; https://hal.science/hal-00636187Test; https://hal.science/hal-00636187/documentTest; https://hal.science/hal-00636187/file/PEER_stage2_10.1038%252Fejhg.2011.71.pdfTest; PUBMED: 21522184; PUBMEDCENTRAL: PMC3179368; WOS: 000294003100009

الإتاحة: https://doi.org/10.1038/ejhg.2011.71Test
https://hal.science/hal-00636187Test
https://hal.science/hal-00636187/documentTest
https://hal.science/hal-00636187/file/PEER_stage2_10.1038%252Fejhg.2011.71.pdfTest

المؤلفون: Hyon, Capucine¹, Marlin, Sandrine², Chantot-Bastaraud, Sandra¹, Mabboux, Philippe¹, Beaujard, Marie-Paule¹, Al Ageeli, Essam¹, Vazquez, Marie-Paule³, Picard, Arnaud³, Siffroi, Jean-Pierre¹, Portnoï, Marie-France¹ marie-france.portnoi@trs.aphp.fr

المصدر: European Journal of Medical Genetics. May2011, Vol. 54 Issue 3, p287-291. 5p.

مصطلحات موضوعية: *CHROMOSOME abnormalities, *CHROMOSOMAL translocation, *COMPARATIVE genomic hybridization, *PSYCHOMOTOR disorders, *CYTOGENETICS, *FACIAL abnormalities, *FLUORESCENCE in situ hybridization, *DEVELOPMENTAL delay

المؤلفون: Ader, Flavie¹ (AUTHOR) flavie.ader@aphp.fr, Heide, Solveig¹ (AUTHOR), Marzin, Pauline¹ (AUTHOR), Afenjar, Alexandra² (AUTHOR), Diguet, Flavie^3,4 (AUTHOR), Chantot Bastaraud, Sandra¹ (AUTHOR), Rollat-Farnier, Pierre-Antoine^3,5 (AUTHOR), Sanlaville, Damien^3,4 (AUTHOR), Portnoï, Marie-France¹ (AUTHOR), Siffroi, Jean-Pierre¹ (AUTHOR), Schluth-Bolard, Caroline^3,4 (AUTHOR)

المصدر: European Journal of Medical Genetics. Apr2020, Vol. 63 Issue 4, pN.PAG-N.PAG. 1p.

مصطلحات موضوعية: *NUCLEOTIDE sequencing, *GENETIC disorders, *CORPUS callosum, *DWARFISM, *DEVELOPMENTAL delay, *CHROMOSOME analysis, *EXOMES