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American Journal of Human Genetics|April 20, 2010
Distinct variants at LIN28B influence growth in height from birth to adulthoodElisabeth Widén, Samuli Ripatti, Diana L Cousminer, et al.American Journal of Human Genetics|August 16, 2006
A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 geneGuy Van Camp, Rikkert L Snoeckx, Nele Hilgert, et al.American Journal of Human Genetics|August 16, 2006
X chromosome-inactivation patterns of 1,005 phenotypically unaffected femalesJames M Amos-Landgraf, Amy Cottle, Robert M Plenge, et al.American Journal of Human Genetics|August 16, 2006
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardationJ M Friedman, Agnes Baross, Allen D Delaney, et al.American Journal of Human Genetics|August 16, 2006
Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22)Terry Ashley, Ann P Gaeth, Hidehito Inagaki, et al.American Journal of Human Genetics|August 16, 2006
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colonKlaus Fellermann, Daniel E Stange, Elke Schaeffeler, et al.American Journal of Human Genetics|August 16, 2006
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferaseSaskia A J Lesnik Oberstein, Marjolein Kriek, Stefan J White, et al.American Journal of Human Genetics|August 4, 2009
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 genePaul Renbaum, Efrat Kellerman, Ranit Jaron, et al.American Journal of Human Genetics|December 17, 2008
Association of genetic variants at 3q22 with nephropathy in patients with type 1 diabetes mellitusBing He, Anne-May Osterholm, Anna Hoverfält, et al.American Journal of Human Genetics|September 1, 1991
GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patientsJ Nishimoto, E Nanba, K Inui, et al.Pageof 979