Showing results (301-310 of 315) with videos related to
Sort By:
Pageof 32
American Journal of Human Genetics|March 31, 2000
Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) geneL B Meira, J M Graham, C R Greenberg, et al.Clinical Genetics|July 9, 2013
Phenotype-genotype correlations in patients with Marinesco-Sjögren syndromeF Ezgu, P Krejci, S Li, et al.Genomics|August 11, 1992
Deletion mapping of H-Y antigen to the long arm of the human Y chromosomeM A Cantrell, J S Bogan, E Simpson, et al.American Journal of Medical Genetics|June 28, 2001
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3D N Schweitzer, J M Graham, R S Lachman, et al.European Journal of Clinical Investigation|March 19, 2003
Effects of insulin lispro and chronic vitamin C therapy on postprandial lipaemia, oxidative stress and endothelial function in patients with type 2 diabetes mellitusM Evans, R A Anderson, J C Smith, et al.Neurology|December 15, 2004
Diffusion tensor imaging for the assessment of upper motor neuron integrity in ALSJ M Graham, N Papadakis, J Evans, et al.American Journal of Human Genetics|March 1, 1996
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicingG A Meyers, D Day, R Goldberg, et al.Clinical Radiology|May 19, 1998
Radiological malformations of the ear in Pendred syndromeP D Phelps, R A Coffey, R C Trembath, et al.American Journal of Medical Genetics|December 31, 1997
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical GeneticsC J Curry, R E Stevenson, D Aughton, et al.Journal of Medical Genetics|September 23, 2008
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndromeM J Lyons, J M Graham, G Neri, et al.Pageof 32