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American Journal of Human Genetics|June 18, 2013
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89Regie Lyn P Santos-Cortez, Kwanghyuk Lee, Zahid Azeem, et al.BMC Medical Genetics|February 17, 2016
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIPKhadim Shah, Raja Hussain Ali, Muhammad Ansar, et al.Human Molecular Genetics|October 4, 2017
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndromeAdrian Palencia-Campos, Asmat Ullah, Julian Nevado, et al.American Journal of Human Genetics|December 28, 2010
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74Zubair M Ahmed, Rizwan Yousaf, Byung Cheon Lee, et al.Human Genetics|June 11, 2011
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19pAtteeq U Rehman, Khitab Gul, Robert J Morell, et al.Investigative Ophthalmology & Visual Science|September 13, 2018
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis PigmentosaZahid Latif, Imen Chakchouk, Isabelle Schrauwen, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 6, 2018
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in MiceIsabelle Schrauwen, Arnaud Pj Giese, Abdul Aziz, et al.International Journal of Dermatology|November 14, 2017
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous familiesKhadim Shah, Sabba Mehmood, Abid Jan, et al.Human Molecular Genetics|February 1, 2014
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafishRegie Lyn P Santos-Cortez, Kwanghyuk Lee, Arnaud P Giese, et al.American Journal of Human Genetics|February 9, 2010
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairmentMargit Schraders, Kwanghyuk Lee, Jaap Oostrik, et al.Pageof 34