Showing results (51-60 of 56) with videos related to
Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 56 results.
Human Mutation|April 3, 2007
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. OnlineRana Khaddour, Ursula Smith, Lekbir Baala, et al.American Journal of Human Genetics|June 15, 2007
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndromeLekbir Baala, Sophie Audollent, Jéléna Martinovic, et al.Human Mutation|February 20, 2013
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndromeMark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, et al.Nature Reviews. Endocrinology|January 30, 2018
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statementFrédéric Brioude, Jennifer M Kalish, Alessandro Mussa, et al.The Journal of Clinical Endocrinology and Metabolism|December 14, 2011
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiencyNils Krone, Nicole Reisch, Jan Idkowiak, et al.Bone & Joint Open|April 10, 2026
The Children's Urgent Reduction of Forearm Fractures in the Emergency Department (CURFFED) project : a national prospective trainee-led collaborative audit of practiceLysander J Gourbault, Robert Whitham, Andrew Womersley, et al.Pageof 6