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A Hamosh

Showing results (11-20 of 32) with videos related to

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The Journal of Pediatrics|May 15, 1998
Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemiaA Hamosh, J F Maher, G A Bellus, et al.
Human Mutation|January 11, 1992
Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosomeM Macek, A Hamosh, S Kiesewetter, et al.
The Journal of Pediatrics|July 1, 1992
Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infantA Hamosh, J W McDonald, D Valle, et al.
American Journal of Medical Genetics. Part A|June 25, 2004
Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency)M L Loscalzo, R L Galczynski, A Hamosh, et al.
The Journal of Pediatrics|March 20, 1998
Comparison of the clinical manifestations of cystic fibrosis in black and white patientsA Hamosh, S C FitzSimmons, M Macek, et al.
Human Mutation|January 1, 1997
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR geneM Macek, B Mercier, A Macková, et al.
Neurology|November 24, 2004
Natural history of nonketotic hyperglycinemia in 65 patientsJ E Hoover-Fong, S Shah, J L K Van Hove, et al.
American Journal of Medical Genetics|December 4, 1995
Association of anophthalmia and esophageal atresiaD Sandler, A Mancuso, T Becker, et al.
Human Molecular Genetics|January 12, 2001
Familial Tetralogy of Fallot caused by mutation in the jagged1 geneZ A Eldadah, A Hamosh, N J Biery, et al.
The Journal of Clinical Investigation|December 1, 1991
Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosisA Hamosh, B C Trapnell, P L Zeitlin, et al.
Pageof 4

Showing results (11-20 of 32) with videos related to

Sort By:
Pageof 4
The Journal of Pediatrics|May 15, 1998
Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemiaA Hamosh, J F Maher, G A Bellus, et al.
Human Mutation|January 11, 1992
Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosomeM Macek, A Hamosh, S Kiesewetter, et al.
The Journal of Pediatrics|July 1, 1992
Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infantA Hamosh, J W McDonald, D Valle, et al.
American Journal of Medical Genetics. Part A|June 25, 2004
Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency)M L Loscalzo, R L Galczynski, A Hamosh, et al.
The Journal of Pediatrics|March 20, 1998
Comparison of the clinical manifestations of cystic fibrosis in black and white patientsA Hamosh, S C FitzSimmons, M Macek, et al.
Human Mutation|January 1, 1997
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR geneM Macek, B Mercier, A Macková, et al.
Neurology|November 24, 2004
Natural history of nonketotic hyperglycinemia in 65 patientsJ E Hoover-Fong, S Shah, J L K Van Hove, et al.
American Journal of Medical Genetics|December 4, 1995
Association of anophthalmia and esophageal atresiaD Sandler, A Mancuso, T Becker, et al.
Human Molecular Genetics|January 12, 2001
Familial Tetralogy of Fallot caused by mutation in the jagged1 geneZ A Eldadah, A Hamosh, N J Biery, et al.
The Journal of Clinical Investigation|December 1, 1991
Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosisA Hamosh, B C Trapnell, P L Zeitlin, et al.
Pageof 4