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Journal of Medical Genetics|October 4, 2005
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palateF Laumonnier, S Holbert, N Ronce, et al.Neurobiology of Disease|May 20, 2015
Elevated microRNA-181c and microRNA-30d levels in the enlarged amygdala of the valproic acid rat model of autismN F M Olde Loohuis, K Kole, J C Glennon, et al.Genes, Brain, and Behavior|August 19, 2014
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrusD-C Cai, H Fonteijn, T Guadalupe, et al.Journal of Medical Genetics|April 5, 2005
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndromeT Kleefstra, M Smidt, M J G Banning, et al.Cell|October 27, 1999
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndromeJ Celli, P Duijf, B C Hamel, et al.Human Molecular Genetics|February 13, 2001
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63J A McGrath, P H Duijf, V Doetsch, et al.Journal of Medical Genetics|September 20, 2005
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGHD Lugtenberg, A P M de Brouwer, T Kleefstra, et al.Journal of Medical Genetics|May 24, 2005
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21M Ali, L J Highet, D Lacombe, et al.Nature Genetics|February 2, 2000
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocationR Zemni, T Bienvenu, M C Vinet, et al.American Journal of Human Genetics|May 29, 2000
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21Y J Crow, A P Jackson, E Roberts, et al.Pageof 7