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American Journal of Human Genetics|July 6, 2010
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndromeLisa G Riley, Sandra Cooper, Peter Hickey, et al.American Journal of Human Genetics|July 6, 2010
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4Duane L Guernsey, Haiyan Jiang, Julie Hussin, et al.American Journal of Human Genetics|October 26, 2010
Defective mitochondrial mRNA maturation is associated with spastic ataxiaAndrew H Crosby, Heema Patel, Barry A Chioza, et al.American Journal of Human Genetics|January 1, 1990
Molecular analysis of hemophilia A mutations in the Finnish populationB Levinson, A E Lehesjoki, A de la Chapelle, et al.American Journal of Human Genetics|August 1, 1990
Genetic determination of fragile-site expressionD Smeets, A AretsAmerican Journal of Human Genetics|August 1, 1990
Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiencyD W Howells, S M Forrest, H H Dahl, et al.American Journal of Human Genetics|December 21, 2010
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosisEva Klopocki, Silke Lohan, Francesco Brancati, et al.American Journal of Human Genetics|October 1, 1990
An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 geneN Howell, D McCulloughAmerican Journal of Human Genetics|January 4, 2011
Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndromeHana Abouzeid, Gaëlle Boisset, Tatiana Favez, et al.American Journal of Human Genetics|February 1, 2011
Mutations in prickle orthologs cause seizures in flies, mice, and humansHirotaka Tao, J Robert Manak, Levi Sowers, et al.Pageof 979