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Molecular Genetics and Metabolism|December 17, 2009
A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorptionEsther Meyer, Manju A Kurian, Shanaz Pasha, et al.
Molecular Vision|May 23, 2009
Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataractEsther Meyer, Fatimah Rahman, Jessica Owens, et al.
Plos Genetics|March 21, 2009
Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome)Esther Meyer, Derek Lim, Shanaz Pasha, et al.
Molecular Vision|April 21, 2010
Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathyEsther Meyer, Michel Michaelides, Louise J Tee, et al.
Human Genetics|June 17, 2005
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutationsTim Forshew, Colin A Johnson, Shagufta Khaliq, et al.
American Journal of Human Genetics|December 31, 2005
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)Neil V Morgan, Shanaz Pasha, Colin A Johnson, et al.
Orphanet Journal of Rare Diseases|May 18, 2013
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver diseaseNeil V Morgan, Jane L Hartley, Kenneth D R Setchell, et al.
The Journal of Clinical Investigation|January 6, 2011
Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cellsNeil V Morgan, Sarah Goddard, Tony S Cardno, et al.
The Journal of Clinical Investigation|May 30, 2009
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystoniaManju A Kurian, Juan Zhen, Shu-Yuan Cheng, et al.
European Journal of Human Genetics : EJHG|November 16, 2006
Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10Dominic R A White, Anuradha Ganesh, Darryl Nishimura, et al.
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