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Human Genetics|June 1, 1997
A second family with XLRH displays the mutation S244L in the CLCN5 geneC Oudet, D Martin-Coignard, S Pannetier, et al.American Journal of Medical Genetics. Part A|May 19, 2009
Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganizationB Isidor, G Baujat, C Le Caignec, et al.Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 7, 2014
[Donohue syndrome or leprechaunism]D Planchenault, D Martin-Coignard, D Rugemintwaza, et al.American Journal of Medical Genetics. Part A|October 16, 2010
Tibial developmental field defect in valproic acid embryopathy: Report on three casesJ L Alessandri, B Isidor, A David, et al.Journal of Medical Genetics|July 17, 2008
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigationV Laugel, C Dalloz, E S Tobias, et al.European Journal of Human Genetics : EJHG|August 31, 2001
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosisS Gerber, I Perrault, S Hanein, et al.Molecular Syndromology|October 30, 2013
Array-CGH Analysis Suggests Genetic Heterogeneity in RhombencephalosynapsisF Démurger, L Pasquier, C Dubourg, et al.Journal of Medical Genetics|August 1, 2009
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) familiesM Willems, D Geneviève, G Borck, et al.Clinical Genetics|September 17, 2013
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmiaN Chassaing, A Causse, A Vigouroux, et al.Human Mutation|November 7, 2009
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndromeV Laugel, C Dalloz, M Durand, et al.Pageof 2