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المؤلفون: Leïla, Ghesh, Julie, Désir, Damien, Haye, Pauline Le, Tanno, Françoise, Devillard, Benjamin, Cogné, Martina, Marangoni, Laura, Tecco, Delphine, Heron, Claudine, Le Vaillant, Madeleine, Joubert, Claire, Beneteau
المصدر: Clinical Genetics. 103:560-565
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Leïla, Ghesh, Thomas, Besnard, Madeleine, Joubert, Véronique, Picard, Claudine, Le Vaillant, Claire, Beneteau
المصدر: Clinical Genetics. 102:543-547
مصطلحات موضوعية: Pregnancy, Hydrops Fetalis, Genetics, Humans, Edema, Female, Channelopathies, Anemia, Hemolytic, Congenital, Ion Channels, Genetics (clinical)
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المؤلفون: Amy Hardcastle, Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda E. Gerard, Jill A. Rosenfeld, Saumya D. Sisoudiya, Andres Hernandez‐Garcia, Sara Loddo, Silvia Di Tommaso, Antonio Novelli, Maria L. Dentici, Rossella Capolino, Maria C. Digilio, Ludovico Graziani, Cecilie F. Rustad, Katherine Neas, Giovanni B. Ferrero, Alfredo Brusco, Eleonora Di Gregorio, Diana Wellesley, Claire Beneteau, Madeleine Joubert, Kris Van Den Bogaert, Anneleen Boogaerts, Dominic J. McMullan, John Dean, Maria G. Giuffrida, Laura Bernardini, Vinod Varghese, Nora L. Shannon, Rachel E. Harrison, Wayne W. K. Lam, Shane McKee, Peter D. Turnpenny, Trevor Cole, Jenny Morton, Jacqueline Eason, Marilyn C. Jones, Rebecca Hall, Michael Wright, Karen Horridge, Chad A. Shaw, Wendy K. Chung, Daryl A. Scott
المصدر: American Journal of Medical Genetics Part A. 188:2958-2968
مصطلحات موضوعية: DNA Copy Number Variations, Diaphragm, USP9X, CREBBP, DECIPHER database, SMARCA4, UBA2, congenital diaphragmatic hernia, Mice, Genetics, Animals, Hernias, Diaphragmatic, Congenital, Genetics (clinical)
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المؤلفون: Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hulya Kayserili, Kimberly A. Kripps, Shareef A. Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogne, Aida M. Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade
المساهمون: Center for Reproductive Medicine, ACS - Heart failure & arrhythmias, Amsterdam Reproduction & Development
المصدر: Nature genetics. Nature Publishing Group
مصطلحات موضوعية: Adult, Liver Cirrhosis, Liver, Tumor Suppressor Proteins, Hepatocytes, Genetics, Animals, Humans, RNA, Messenger, Syndrome, Child, Zebrafish
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المؤلفون: Minh-Tuan Huynh, Stéphane Bézieau, Madeleine Joubert, Leila Ghesh, Gerard Marion, Claire Beneteau, Khalid Alfallaj, Olivier Pichon, Kara Ranguin
المصدر: neurogenetics. 22:195-206
مصطلحات موضوعية: 0301 basic medicine, Ectodermal dysplasia, Candidate gene, Microcephaly, Genotype, Endocrinology, Diabetes and Metabolism, Biology, Biochemistry, 03 medical and health sciences, Cellular and Molecular Neuroscience, Endocrinology, 0302 clinical medicine, Pregnancy, Genetics, medicine, Humans, Abnormalities, Multiple, Molecular Biology, Genetics (clinical), Problem Behavior, Comparative Genomic Hybridization, medicine.diagnostic_test, Genomics, Microdeletion syndrome, medicine.disease, Penetrance, Human genetics, Phenotype, 030104 developmental biology, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, 030217 neurology & neurosurgery, Fluorescence in situ hybridization, Comparative genomic hybridization
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المؤلفون: Cong Toai Tran, Madeleine Joubert, Minh-Tuan Huynh, Claire Beneteau
المصدر: Cytogenetic and Genome Research. 161:445-448
مصطلحات موضوعية: Genetics, Biology, Gene deletion, medicine.disease, Phenotype, Hypotonia, Exon, Underlying disease, Intellectual disability, medicine, medicine.symptom, Haploinsufficiency, Molecular Biology, Gene, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d3086de9119357c81228c2594375874b
https://doi.org/10.1159/000518689 -
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المؤلفون: Frédéric Bilan, Antonio Pizzuti, Madeleine Joubert, Claire Beneteau, Brigitte Gilbert-Dussardier, Laura Bernardini, Matthieu Egloff, Tanguy Niclass, Gwenaël Le Guyader, Maria Grazia Giuffrida
المصدر: American Journal of Medical Genetics Part A. 182:2133-2138
مصطلحات موضوعية: 0301 basic medicine, business.industry, Horseshoe kidney, Anatomy, 030105 genetics & heredity, Microdeletion syndrome, medicine.disease, Hydrocephalus, 03 medical and health sciences, 030104 developmental biology, Pectus excavatum, Genetics, Medicine, Syndactyly, Hypertelorism, medicine.symptom, business, Genetics (clinical), Ventriculomegaly, Low-set ears
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المؤلفون: Marianne Begorre, Daniel Cailliez, Claire Beneteau, Pierre Chenal, Thierry Frebourg, Guillaume Benoist, François Lecoquierre, Raphaele Mangione, Florence Petit, Nicolas Gruchy, Louise Devisme, Sophie Patrier, Juliette Coursimault, Fanny Pelluard, Hubert Journel, Bénédicte Gérard, Marion Gérard, Pascale Saugier-Veber, Valérie Layet, Alain Liquier, Corinne Jeanne, Mirjam M. de Jong, Nadia Tillouche, Anne Bazin, Gaël Nicolas, Conny M. A. van Ravenswaaij-Arts, Anne-Claire Brehin, Wilfrid Finck, Sophie Coutant, Sophie Degre, Christine Francannet, Madeleine Joubert, Hélène Laurichesse Delmas
المساهمون: Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire CERBA [Saint Ouen l'Aumône], Service d'Anatomie Pathologique [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Université de Lausanne = University of Lausanne (UNIL), Service de Gynécologie-Obstétrique et Médecine de la Reproduction [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Groupe Hospitalier du Havre, University of Groningen [Groningen], Institut de Pathologie [CHU Lille], Pôle de Biologie Pathologie Génétique [CHU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Clermont-Ferrand, Service d'hématologie et immunologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Génétique Médicale, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA)-Hôpital Chubert, Unité de Cytogénétique et Génétique Médicale, Groupe Hospitalier du Havre-Hôpital Gustave Flaubert, Service d'Anatomie et Cytologie Pathologique [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Laboratoire d'anatomie pathologique, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Institut méditerranéen de biodiversité et d'écologie marine et continentale (IMBE), Avignon Université (AU)-Aix Marseille Université (AMU)-Institut de recherche pour le développement [IRD] : UMR237-Centre National de la Recherche Scientifique (CNRS), Laboratoire de cytogénétique prénatale [CHU Caen], UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Normandie Université (NU)-Normandie Université (NU), Service de Génétique [CHU Caen], Clinical Cognitive Neuropsychiatry Research Program (CCNP), Université de Lausanne (UNIL), Université Paris Diderot - Paris 7 (UPD7)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
المصدر: Human Mutation
Human Mutation, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Human Mutation, 41(5), 926-933. Wiley
Human Mutation, Wiley, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩مصطلحات موضوعية: Male, Genotype, audal dysgenesis, Ectromelia, [SDV]Life Sciences [q-bio], REQUIREMENT, Malformation sequence, Biology, Sirenomelia, CAUDAL REGRESSION, Frameshift mutation, 03 medical and health sciences, Genetics, medicine, Humans, CDX2 Transcription Factor, Genetic Predisposition to Disease, CDX2, Gene, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, Adaptor Proteins, Signal Transducing, 030304 developmental biology, 0303 health sciences, Calcium-Binding Proteins, 030305 genetics & heredity, Wnt signaling pathway, Heterozygote advantage, DEFECTS, medicine.disease, caudal dysgenesis, de novo mutation, Pedigree, Phenotype, Amino Acid Substitution, GROWTH, Female, CDX2 de novo mutation, exome sequencing
وصف الملف: application/pdf
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المؤلفون: Odile Boute, Leila Ghesh, Nadia Elkhartoufi, Marie Denis Musquer, Lucile Boutaud, Anne-Sophie Riteau, Pascal Vaast, Norbert Winer, Claudine Le Vaillant, Claire Beneteau, Stéphane Bézieau, Sophie Thomas, Madeleine Joubert, Tania Attié-Bitach, Louise Devisme, Morgane Stichelbout
المصدر: Clinical geneticsREFERENCES. 100(4)
مصطلحات موضوعية: Heart Defects, Congenital, Genotype, media_common.quotation_subject, Nonsense, Hydrolethalus syndrome, Biology, Compound heterozygosity, Ultrasonography, Prenatal, Fetus, Pregnancy, Ciliogenesis, Genetics, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Allele, Genetics (clinical), Alleles, Genetic Association Studies, media_common, Comparative Genomic Hybridization, Genetic Variation, Proteins, medicine.disease, Phenotype, Immunohistochemistry, Pedigree, Amino Acid Substitution, Female, Autopsy, Hand Deformities, Congenital, Hydrocephalus
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المؤلفون: null Leïla Ghesh, null Marie Denis Musquer, null Louise Devisme, null Morgane Stichelbout, null Lucile Boutaud, null Nadia Elkhartoufi, null Pascal Vaast, null Odile Boute, null Anne‐Sophie Riteau, null Claudine Le Vaillant, null Norbert Winer, null Madeleine Joubert, null Stéphane Bezieau, null Sophie Thomas, null Tania Attie‐Bitach, null Claire Beneteau
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b91659d0bf00c60809e52ae0d6934fe5
https://doi.org/10.1111/cge.14021/v2/response1