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J A Hurst

Showing results (41-50 of 44) with videos related to

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American Journal of Medical Genetics|December 11, 1996
Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated familiesR M Hughes-Benzie, G Pilia, J Y Xuan, et al.
Journal of Medical Genetics|July 4, 2009
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndromeH Vega, A H Trainer, M Gordillo, et al.
Journal of Medical Genetics|November 14, 1997
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative studyA K Ryan, J A Goodship, D I Wilson, et al.
Journal of Medical Genetics|July 17, 2008
Clinical and molecular delineation of the 17q21.31 microdeletion syndromeD A Koolen, A J Sharp, J A Hurst, et al.
Pageof 5

Showing results (41-50 of 44) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 44 results.
American Journal of Medical Genetics|December 11, 1996
Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated familiesR M Hughes-Benzie, G Pilia, J Y Xuan, et al.
Journal of Medical Genetics|July 4, 2009
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndromeH Vega, A H Trainer, M Gordillo, et al.
Journal of Medical Genetics|November 14, 1997
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative studyA K Ryan, J A Goodship, D I Wilson, et al.
Journal of Medical Genetics|July 17, 2008
Clinical and molecular delineation of the 17q21.31 microdeletion syndromeD A Koolen, A J Sharp, J A Hurst, et al.
Pageof 5