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A Hamosh

Showing results (1-10 of 32) with videos related to

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Journal of Inherited Metabolic Disease|January 1, 1992
Argininosuccinase deficiency in a premature infantW Wenner, A Hamosh
Nature Medicine|June 1, 1996
Nonstop treatment of cystic fibrosisH C Dietz, A Hamosh
Nature Genetics|July 1, 1993
Nonsense mutations and diminished mRNA levelsI McIntosh, A Hamosh, H C Dietz
Human Molecular Genetics|October 1, 1992
CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cellsA Hamosh, B J Rosenstein, G R Cutting
The Journal of Pediatrics|April 1, 1997
False-positive results of genetic testing in cystic fibrosisW S Warren, A Hamosh, M Egan, et al.
JIMD Reports|June 13, 2013
Chronic kidney disease in an adult with propionic acidemiaH J Vernon, S Bagnasco, A Hamosh, et al.
American Journal of Medical Genetics|September 24, 1999
Pachygyria in Weaver syndromeB M Freeman, A H Hoon, S N Breiter, et al.
Human Mutation|December 29, 1999
Online Mendelian Inheritance in Man (OMIM)A Hamosh, A F Scott, J Amberger, et al.
Journal of Inherited Metabolic Disease|October 13, 2009
Hydroxocobalamin dose escalation improves metabolic control in cblCN Carrillo-Carrasco, J Sloan, D Valle, et al.
Molecular Genetics and Metabolism|April 27, 2010
Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuriaH J Vernon, C B Koerner, M R Johnson, et al.
Pageof 4

Showing results (1-10 of 32) with videos related to

Sort By:
Pageof 4
Journal of Inherited Metabolic Disease|January 1, 1992
Argininosuccinase deficiency in a premature infantW Wenner, A Hamosh
Nature Medicine|June 1, 1996
Nonstop treatment of cystic fibrosisH C Dietz, A Hamosh
Nature Genetics|July 1, 1993
Nonsense mutations and diminished mRNA levelsI McIntosh, A Hamosh, H C Dietz
Human Molecular Genetics|October 1, 1992
CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cellsA Hamosh, B J Rosenstein, G R Cutting
The Journal of Pediatrics|April 1, 1997
False-positive results of genetic testing in cystic fibrosisW S Warren, A Hamosh, M Egan, et al.
JIMD Reports|June 13, 2013
Chronic kidney disease in an adult with propionic acidemiaH J Vernon, S Bagnasco, A Hamosh, et al.
American Journal of Medical Genetics|September 24, 1999
Pachygyria in Weaver syndromeB M Freeman, A H Hoon, S N Breiter, et al.
Human Mutation|December 29, 1999
Online Mendelian Inheritance in Man (OMIM)A Hamosh, A F Scott, J Amberger, et al.
Journal of Inherited Metabolic Disease|October 13, 2009
Hydroxocobalamin dose escalation improves metabolic control in cblCN Carrillo-Carrasco, J Sloan, D Valle, et al.
Molecular Genetics and Metabolism|April 27, 2010
Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuriaH J Vernon, C B Koerner, M R Johnson, et al.
Pageof 4