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Clinical Genetics|July 9, 2013
Carrier frequency of two BBS2 mutations in the Ashkenazi populationA Fedick, C Jalas, D Abeliovich, et al.Clinical Genetics|June 1, 1990
The cis-configuration effects of rare chromosomal fragile sitesG B CôtéClinical Genetics|July 13, 2013
LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory functionH A Jackson, S McIntosh, B Whittome, et al.Clinical Genetics|April 1, 1990
Batten's disease: failure of allogeneic bone marrow transplantation to arrest disease progression in a canine modelH J Deeg, H M Shulman, D Albrechtsen, et al.Clinical Genetics|March 21, 2013
Living with inborn errors of cholesterol biosynthesis: lessons from adult patientsM L Cardoso, M Barbosa, D Serra, et al.Clinical Genetics|March 21, 2013
Genome-wide androgenetic mosaicismJ P Johnson, J Waterson, C Schwanke, et al.Clinical Genetics|April 12, 2013
A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrierA Todorova, I Litvinenko, T Todorov, et al.Clinical Genetics|May 25, 2013
Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek islandI Mavridou, M Cozar, S Douzgou, et al.Clinical Genetics|May 25, 2013
Whole-genome copy number variation analysis in anophthalmia and microphthalmiaK F Schilter, L M Reis, A Schneider, et al.Clinical Genetics|May 30, 2013
The golden era of ocular disease gene discovery: race to the finishA Swaroop, P A SievingPageof 718