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Journal of Medical Genetics|March 1, 1990
EEC syndrome without ectrodactyly: report of two new familiesJ P Fryns, E Legius, A M Dereymaeker, et al.Journal of Medical Genetics|March 1, 1990
Identical twins discordant for Kallmann's syndromeL J Hipkin, I F Casson, J C DavisJournal of Medical Genetics|April 1, 1990
Becker muscular dystrophy: correlation of deletion type with clinical severityA M Norman, N S Thomas, H M Kingston, et al.Journal of Medical Genetics|February 26, 2013
ARHGDIA: a novel gene implicated in nephrotic syndromeIndra Rani Gupta, Cindy Baldwin, David Auguste, et al.Journal of Medical Genetics|March 8, 2013
Genetics of arrhythmogenic right ventricular cardiomyopathyOscar Campuzano, Mireia Alcalde, Catarina Allegue, et al.Journal of Medical Genetics|February 7, 2013
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variantsHanne Eknes Puntervoll, Xiaohong R Yang, Hildegunn Høberg Vetti, et al.Journal of Medical Genetics|March 5, 2013
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMiriam Schmidts, Heleen H Arts, Ernie M H F Bongers, et al.Journal of Medical Genetics|November 29, 2012
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresiaChristopher T Gordon, Florence Petit, Myriam Oufadem, et al.Journal of Medical Genetics|November 29, 2012
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencingJan Halbritter, Katrina Diaz, Moumita Chaki, et al.Journal of Medical Genetics|February 1, 1990
Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7D R Romain, H Cairney, D Stewart, et al.Pageof 649