Showing results (251-260 of 259) with videos related to
Sort By:
Pageof 26
You have reached the last page of results.This site can display upto 259 results.
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.Human Molecular Genetics|January 15, 1999
The spectrum of mutations in UBE3A causing Angelman syndromeP Fang, E Lev-Lehman, T F Tsai, et al.Clinical Genetics|August 2, 2011
Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthoodM Klaassens, E Reinstein, Y Hilhorst-Hofstee, et al.Human Genetics|November 10, 2001
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformationsM J Rosenberg, C Killoran, L Dziadzio, et al.Human Molecular Genetics|July 13, 1999
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndromeD J Marsh, J B Kum, K L Lunetta, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 1, 2018
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathyF Tran Mau-Them, L Guibaud, L Duplomb, et al.Pageof 26