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American Journal of Human Genetics|February 18, 2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyMaila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, 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.American Journal of Human Genetics|July 19, 2011
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disabilityMuhammad Arshad Rafiq, Andreas W Kuss, Lucia Puettmann, et al.American Journal of Human Genetics|February 24, 2015
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problemsZafar Iqbal, Marjolein H Willemsen, Marie-Amélie Papon, et al.Journal of Medical Genetics|April 10, 2014
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrumAnne Thorwarth, Sarah Schnittert-Hübener, Pamela Schrumpf, et al.Nature Genetics|October 5, 2010
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesSabine Endele, Georg Rosenberger, Kirsten Geider, et al.American Journal of Human Genetics|October 5, 2010
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndromeHyung-Goo Kim, Jang-Won Ahn, Ingo Kurth, et al.Human Genetics|November 11, 2010
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspotsAndreas Walter Kuss, Masoud Garshasbi, Kimia Kahrizi, et al.Proceedings of the National Academy of Sciences of the United States of America|July 8, 2011
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humansChanghui Pak, Masoud Garshasbi, Kimia Kahrizi, et al.Brain : a Journal of Neurology|February 1, 2008
Epilepsy and mental retardation limited to females: an under-recognized disorderIngrid E Scheffer, Samantha J Turner, Leanne M Dibbens, et al.Pageof 13