Showing results (1751-1760 of 9,792) with videos related to
Sort By:
Pageof 980
American Journal of Human Genetics|September 3, 2013
Diversity of lactase persistence alleles in Ethiopia: signature of a soft selective sweepBryony L Jones, Tamiru O Raga, Anke Liebert, et al.American Journal of Human Genetics|September 3, 2013
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defectsEsther Kott, Marie Legendre, Bruno Copin, et al.American Journal of Human Genetics|August 9, 2014
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosisJoshua D Smith, Anne V Hing, Christine M Clarke, et al.American Journal of Human Genetics|August 1, 1989
Gaucher disease: molecular heterogeneity and phenotype-genotype correlationsB Theophilus, T Latham, G A Grabowski, et al.American Journal of Human Genetics|December 1, 1989
The putative testis-determining factor and related genes are expressed as discrete-sized transcripts in adult gonadal and somatic tissuesY F Lau, K M ChanAmerican Journal of Human Genetics|January 22, 2013
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticityMonia B Hammer, Ghada Eleuch-Fayache, Lucia V Schottlaender, et al.American Journal of Human Genetics|January 22, 2013
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusGea Beunders, Els Voorhoeve, Christelle Golzio, et al.American Journal of Human Genetics|January 22, 2013
Common genetic risk factors for venous thrombosis in the Chinese populationLiang Tang, Hua-Fang Wang, Xuan Lu, et al.American Journal of Human Genetics|May 14, 2013
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophyKornelia Neveling, Lilian A Martinez-Carrera, Irmgard Hölker, et al.American Journal of Human Genetics|May 14, 2013
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disordersMasahiro Nakajima, Shuji Mizumoto, Noriko Miyake, et al.Pageof 980