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Human Mutation|April 24, 2009
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter studyDominic J McMullan, Michael Bonin, Jayne Y Hehir-Kwa, et al.Human Genetics|November 17, 2016
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autismNuria C Bramswig, H-J Lüdecke, M Pettersson, et al.American Journal of Human Genetics|December 13, 2016
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular DiseaseDong-Chuan Guo, Xue-Yan Duan, Ellen S Regalado, et al.American Journal of Human Genetics|December 31, 2005
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardationDorien Lugtenberg, Helger G Yntema, Martijn J G Banning, et al.Nature Genetics|August 10, 2004
Mutations in a new member of the chromodomain gene family cause CHARGE syndromeLisenka E L M Vissers, Conny M A van Ravenswaaij, Ronald Admiraal, et al.HGG Advances|April 1, 2021
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromesJulie C Van De Weghe, Jessica L Giordano, Inge B Mathijssen, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 30, 2014
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autismGeert Vandeweyer, Céline Helsmoortel, Anke Van Dijck, et al.Diabetologia|November 15, 2018
Increased NEFA levels reduce blood Mg2+ in hypertriacylglycerolaemic states via direct binding of NEFA to Mg2Steef Kurstjens, Jeroen H F de Baaij, Caro Overmars-Bos, et al.American Journal of Human Genetics|May 22, 2012
Cantú syndrome is caused by mutations in ABCC9Bregje W M van Bon, Christian Gilissen, Dorothy K Grange, et al.Nature Genetics|November 5, 2002
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeKaren M Lower, Gillian Turner, Bronwyn A Kerr, et al.Pageof 88