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American Journal of Human Genetics|November 26, 2009
Using lifetime risk estimates in personal genomic profiles: estimation of uncertaintyQuanhe Yang, W Dana Flanders, Ramal Moonesinghe, et al.American Journal of Human Genetics|August 23, 2016
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset EncephalopathyMikko Muona, Ryosuke Ishimura, Anni Laari, et al.American Journal of Human Genetics|August 23, 2016
Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic ArrestYao Xu, Yingli Shi, Jing Fu, et al.American Journal of Human Genetics|August 23, 2016
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze PalsyTobias B Haack, Erika Ignatius, Javier Calvo-Garrido, et al.American Journal of Human Genetics|July 8, 2017
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival FibromatosisYavuz Bayram, Janson J White, Nursel Elcioglu, et al.American Journal of Human Genetics|July 8, 2017
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar AtaxiaAna I Seixas, Joana R Loureiro, Cristina Costa, et al.American Journal of Human Genetics|July 4, 2017
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic EncephalopathyAnna Lehman, Samrat Thouta, Grazia M S Mancini, et al.American Journal of Human Genetics|October 1, 1992
Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathyM G Sweeney, M B Davis, A Lashwood, et al.American Journal of Human Genetics|October 1, 1992
The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533Y Li, B Müller, C Fuhrmann, et al.American Journal of Human Genetics|October 1, 1992
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12M Ramsay, M A Colman, G Stevens, et al.Pageof 979