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Human Mutation|August 7, 2007
A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotypeAnne Moncla, Chantal Missirian, Pierre Cacciagli, et al.Genes|July 27, 2022
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49Mario Abaji, Svetlana Gorokhova, Nathalie Da Silva, et al.The Journal of Clinical Endocrinology and Metabolism|January 30, 2014
New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011)Véronique Tardy-Guidollet, Rita Menassa, Jean-Marc Costa, et al.American Journal of Human Genetics|March 17, 2004
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastomaDelphine Trochet, Franck Bourdeaut, Isabelle Janoueix-Lerosey, et al.American Journal of Medical Genetics. Part A|May 13, 2014
Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genesCécile Mignon-Ravix, Pierre Cacciagli, Nancy Choucair, et al.Human Mutation|December 28, 2006
Truncation of NHEJ1 in a patient with polymicrogyriaVincent Cantagrel, Anne-Marie Lossi, Steven Lisgo, et al.American Journal of Medical Genetics. Part A|May 12, 2015
Variable clinical expression in patients with mosaicism for KCNQ2 mutationsMathieu Milh, Caroline Lacoste, Pierre Cacciagli, et al.American Journal of Medical Genetics. Part A|June 26, 2010
Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patientsEleni Katzaki, Gilles Morin, Marzia Pollazzon, et al.European Journal of Human Genetics : EJHG|December 1, 2017
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disabilityJérémie Mortreux, Tiffany Busa, Dominique P Germain, et al.Human Mutation|April 4, 2007
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patientsDavid Baux, Lise Larrieu, Catherine Blanchet, et al.Pageof 10