Showing results (191-200 of 9,782) with videos related to
Sort By:
Pageof 979
American Journal of Human Genetics|February 27, 2018
Inherited DNA-Repair Defects in Colorectal CancerSaud H AlDubayan, Marios Giannakis, Nathanael D Moore, et al.American Journal of Human Genetics|February 1, 1987
Down syndrome and maternal age: the effect of erroneous assignment of parental originA D CarothersAmerican Journal of Human Genetics|September 1, 1986
Translocation Down syndrome in Ohio 1970-1981: epidemiologic and cytogenetic factors and mutation rate estimatesL H Pulliam, C A HuetherAmerican Journal of Human Genetics|September 1, 1986
Subregional assignment of the linked marker G8 (D4S10) for Huntington disease to chromosome 4p16.1-16.3H S Wang, C R Greenberg, J Hewitt, et al.American Journal of Human Genetics|December 5, 2017
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsElizabeth E Palmer, Raman Kumar, Christopher T Gordon, et al.American Journal of Human Genetics|February 13, 2018
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone FragilityClothilde Esteve, Ludmila Francescatto, Perciliz L Tan, et al.American Journal of Human Genetics|December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaJonas Straub, Enrico D H Konrad, Johanna Grüner, et al.American Journal of Human Genetics|December 26, 2017
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental DisordersVíctor Faundes, William G Newman, Laura Bernardini, et al.American Journal of Human Genetics|November 7, 2017
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain PhenotypeIdeke J C Lamers, Margot R F Reijnders, Hanka Venselaar, et al.American Journal of Human Genetics|July 1, 1988
Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative studyX Estivill, M Farrall, R Williamson, et al.Pageof 979