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Clinical Genetics|January 25, 2014
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndromeS Lohan, M Spielmann, S C Doelken, et al.Nature Genetics|April 28, 2001
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasiaP Nürnberg, H Thiele, D Chandler, et al.American Journal of Human Genetics|December 5, 1998
Mutation analysis of LMX1B gene in nail-patella syndrome patientsI McIntosh, S D Dreyer, M V Clough, et al.Current Cancer Drug Targets|November 15, 2006
Oncogene-blocking therapies: new insights from conditional mouse tumor modelsJ G Hengstler, E O Bockamp, M Hermes, et al.American Journal of Human Genetics|May 12, 2001
The molecular basis of X-linked spondyloepiphyseal dysplasia tardaA K Gedeon, G E Tiller, M Le Merrer, et al.Genomics|November 5, 1997
Functional characterization of human nucleosome assembly protein-2 (NAP1L4) suggests a role as a histone chaperoneP Rodriguez, D Munroe, D Prawitt, et al.American Journal of Medical Genetics|October 26, 1999
Polytopic anomalies with agenesis of the lower vertebral columnA Bohring, S O Lewin, J F Reynolds, et al.American Journal of Human Genetics|July 1, 1996
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13Y Gong, M Vikkula, L Boon, et al.Biochemical and Biophysical Research Communications|September 24, 2004
4-Epidoxycycline: an alternative to doxycycline to control gene expression in conditional mouse modelsK Eger, M Hermes, K Uhlemann, et al.Journal of Medical Genetics|June 26, 2010
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia familyJ Dai, O-H Kim, T-J Cho, et al.Pageof 18