Showing results (1-10 of 5) with videos related to
Sort By:
Pageof 1
Clinical Dysmorphology|January 8, 2019
Stüve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathwayKarolien Van De Maele, Charlotte Smulders, Ginette Ecury-Goossen, et al.Human Mutation|September 9, 2010
Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange SyndromeJorge Oliveira, Cristina Dias, Egbert Redeker, et al.Nature Reviews. Genetics|July 12, 2018
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statementAntonie D Kline, Joanna F Moss, Angelo Selicorni, et al.American Journal of Medical Genetics. Part A|May 27, 2017
Phenotypes and genotypes in individuals with SMC1A variantsSylvia Huisman, Paul A Mulder, Egbert Redeker, et al.Journal of Medical Genetics|August 16, 2014
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari, Gemma Poke, Quentin Ferry, et al.Pageof 1