Showing results (21-30 of 164) with videos related to
Sort By:
Pageof 17
American Journal of Human Genetics|February 1, 1995
Achondroplasia is defined by recurrent G380R mutations of FGFR3G A Bellus, T W Hefferon, R I Ortiz de Luna, et al.The Journal of Biological Chemistry|February 5, 1992
Calcium ionophore treatment impairs the sterol-mediated suppression of 3-hydroxy-3-methylglutaryl-coenzyme A reductase, 3-hydroxy-3-methylglutaryl-coenzyme A synthase, and farnesyl diphosphate synthetaseD J Wilkin, P A EdwardsAmerican Journal of Medical Genetics|March 10, 2000
Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorderN C Ho, C A Francomano, M van AllenProceedings of the National Academy of Sciences of the United States of America|June 1, 1992
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndromeW F Schwindinger, C A Francomano, M A LevineHuman Molecular Genetics|May 1, 1994
Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4pC A Francomano, R I Ortiz de Luna, T W Hefferon, et al.Human Molecular Genetics|June 19, 2001
Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf miceT Iwata, C L Li, C X Deng, et al.Genomics|May 20, 1995
Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22M H Polymeropoulos, J Poush, J R Rubenstein, et al.Genomics|November 15, 1996
Brachydactyly type C gene maps to human chromsome 12q24M H Polymeropoulos, S E Ide, T Magyari, et al.The Journal of Biological Chemistry|March 15, 1990
Isolation and sequence of the human farnesyl pyrophosphate synthetase cDNA. Coordinate regulation of the mRNAs for farnesyl pyrophosphate synthetase, 3-hydroxy-3-methylglutaryl coenzyme A reductase, and 3-hydroxy-3-methylglutaryl coenzyme A synthase by phorbol esterD J Wilkin, S Y Kutsunai, P A EdwardsGenomics|February 1, 1993
Heteroduplex analysis can increase the informativeness of PCR-amplified VNTR markers: application using a marker tightly linked to the COL2A1 geneD J Wilkin, K E Koprivnikar, D H CohnPageof 17