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Clinical Genetics|June 26, 2019
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature reviewVaroona Bizaoui, Caroline Michot, Geneviève Baujat, et al.American Journal of Human Genetics|May 16, 2009
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type IIINathalie Dagoneau, Marie Goulet, David Geneviève, et al.Human Mutation|June 30, 2020
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation abilityGodelieve Morel, Céline Duhamel, Simon Boussion, et al.Cancers|July 9, 2022
Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 MutationPascal Pujol, Kevin Yauy, Amandine Coffy, et al.Nucleic Acids Research|September 23, 2025
Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variantMarianne Victoria Lemée, Maria Nicla Loviglio, Tao Ye, et al.British Journal of Haematology|August 16, 2005
Clinical and molecular variability in congenital dyserythropoietic anaemia type IHannah Tamary, Orly Dgany, Alexis Proust, et al.Journal of Immunology Research|March 9, 2017
TMEM187-IRAK1 Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic OriginOlfa Khalifa, Nathalie Balandraud, Nathalie Lambert, et al.Molecular Genetics & Genomic Medicine|September 8, 2019
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variationsVincent Gatinois, Nicole Bigi, Eve Mousty, et al.Orphanet Journal of Rare Diseases|April 27, 2025
Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature reviewDidier Bessis, Dominique Vidaud, Pierre Meyer, et al.American Journal of Human Genetics|July 11, 2006
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndromeTjitske Kleefstra, Han G Brunner, Jeanne Amiel, et al.Pageof 13