Showing results (151-160 of 172) with videos related to
Sort By:
Pageof 18
Neurology|August 22, 2008
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre typeL Van Maldergem, M Yuksel-Apak, H Kayserili, et al.Cell|May 30, 1997
Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone developmentF Otto, A P Thornell, T Crompton, et al.Biochemical and Biophysical Research Communications|August 31, 2000
Genomic structure and in vivo expression of the human organic anion transporter 1 (hOAT1) geneA Bahn, D Prawitt, D Buttler, et al.Cell|December 16, 1994
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9T Wagner, J Wirth, J Meyer, et al.Nature Genetics|February 15, 2001
Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndromeR Morello, G Zhou, S D Dreyer, et al.American Journal of Human Genetics|April 1, 1996
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11O Bartsch, W Wuyts, W Van Hul, et al.European Journal of Human Genetics : EJHG|October 22, 1998
Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)S Schuffenhauer, P Lichtner, P Peykar-Derakhshandeh, et al.Proceedings of the National Academy of Sciences of the United States of America|July 8, 1997
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tractF R Goodman, S Mundlos, Y Muragaki, et al.American Journal of Human Genetics|July 11, 2006
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromeC G Woods, S Stricker, P Seemann, et al.Cell|May 30, 1997
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasiaS Mundlos, F Otto, C Mundlos, et al.Pageof 18