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American Journal of Human Genetics|July 1, 1985
Monoclonal antibodies to coagulation factor IX define a high-frequency polymorphism by immunoassaysK J SmithAmerican Journal of Human Genetics|July 1, 1985
Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfateY Ben-Yoseph, J E Reid, B Shapiro, et al.American Journal of Human Genetics|May 23, 1998
Genotype/phenotype correlation in autosomal recessive lamellar ichthyosisH C Hennies, W Küster, V Wiebe, et al.American Journal of Human Genetics|May 23, 1998
A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24S J Mitchell, D P McHale, D A Campbell, et al.American Journal of Human Genetics|May 23, 1998
mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern EuropeA Torroni, H J Bandelt, L D'Urbano, et al.American Journal of Human Genetics|May 23, 1998
Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafnessL M Moynihan, S E Bundey, D Heath, et al.American Journal of Human Genetics|May 23, 1998
Renpenning syndrome maps to Xp11R E Stevenson, J F Arena, E Ouzts, et al.American Journal of Human Genetics|May 23, 1998
The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36J F Lubianca Neto, L Lu, R D Eavey, et al.American Journal of Human Genetics|May 23, 1998
Multipoint quantitative-trait linkage analysis in general pedigreesL Almasy, J BlangeroAmerican Journal of Human Genetics|June 5, 2020
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP SyndromeHuijun Wang, Aytaj Humbatova, Yuanxiang Liu, et al.Pageof 979