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A Hamosh

Showing results (21-30 of 32) with videos related to

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Journal of Inherited Metabolic Disease|July 23, 2003
The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemiaZ N Al-Hassnan, S A Boyadjiev, V Praphanphoj, et al.
American Journal of Human Genetics|July 1, 1996
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosisP W Miller, A Hamosh, M Macek, et al.
American Journal of Human Genetics|January 23, 1999
A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunctionR M Hofstra, O Valdenaire, E Arch, et al.
Genomics|February 1, 1991
The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3H C Dietz, R E Pyeritz, B D Hall, et al.
American Journal of Medical Genetics. Part A|January 28, 2003
Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1Julie E Hoover-Fong, J Cai, C B Cargile, et al.
The Journal of Pediatrics|March 4, 2000
Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndromeR Yaghmai, A Kimyai-Asadi, K Rostamiani, et al.
American Journal of Human Genetics|August 1, 1992
Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileusA Hamosh, T M King, B J Rosenstein, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 1, 1992
CFTR protein expression in primary and cultured epitheliaP L Zeitlin, I Crawford, L Lu, et al.
American Journal of Human Genetics|May 1, 1997
Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%M Macek, A Mackova, A Hamosh, et al.
Human Genetics|May 1, 1997
Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survivalM Macek, M Macek, A Krebsová, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
Journal of Inherited Metabolic Disease|July 23, 2003
The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemiaZ N Al-Hassnan, S A Boyadjiev, V Praphanphoj, et al.
American Journal of Human Genetics|July 1, 1996
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosisP W Miller, A Hamosh, M Macek, et al.
American Journal of Human Genetics|January 23, 1999
A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunctionR M Hofstra, O Valdenaire, E Arch, et al.
Genomics|February 1, 1991
The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3H C Dietz, R E Pyeritz, B D Hall, et al.
American Journal of Medical Genetics. Part A|January 28, 2003
Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1Julie E Hoover-Fong, J Cai, C B Cargile, et al.
The Journal of Pediatrics|March 4, 2000
Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndromeR Yaghmai, A Kimyai-Asadi, K Rostamiani, et al.
American Journal of Human Genetics|August 1, 1992
Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileusA Hamosh, T M King, B J Rosenstein, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 1, 1992
CFTR protein expression in primary and cultured epitheliaP L Zeitlin, I Crawford, L Lu, et al.
American Journal of Human Genetics|May 1, 1997
Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%M Macek, A Mackova, A Hamosh, et al.
Human Genetics|May 1, 1997
Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survivalM Macek, M Macek, A Krebsová, et al.
Pageof 4