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Lap-Chee Tsui

Showing results (21-30 of 36) with videos related to

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Journal of Hepatology|February 7, 2006
Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient miceMitsuaki Moriyama, Meng Xian Li, Keiko Kobayashi, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid typeMuhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Mariam Al-Ali, et al.
The Journal of Investigative Dermatology|January 29, 2005
A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1Muhammad Arshad Rafiq, Mohammad Faiyaz-Ul-Haque, Mohammad Amin Ud Din, et al.
Molecular and Cellular Biology|January 1, 2004
Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemiaDavid S Sinasac, Mitsuaki Moriyama, M Abdul Jalil, et al.
American Journal of Medical Genetics|July 19, 2002
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasiaMuhammad Faiyaz-Ul-Haque, Wasim Ahmad, Abdul Wahab, et al.
Atherosclerosis|September 9, 2008
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndromeMuhammad Faiyaz-Ul-Haque, Syed H E Zaidi, Nouriyah Al-Sanna, et al.
Human Genetics|June 5, 2003
Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitisSunil Sheth, Julie C Shea, Michele D Bishop, et al.
The Journal of Clinical Investigation|February 23, 2008
Complex two-gene modulation of lung disease severity in children with cystic fibrosisRuslan Dorfman, Andrew Sandford, Chelsea Taylor, et al.
Human Molecular Genetics|April 30, 2003
Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humansXiao-Yan Wen, Robert A Hegele, Jian Wang, et al.
The Journal of Biological Chemistry|June 27, 2007
Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiencyTakeyori Saheki, Mikio Iijima, Meng Xian Li, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
Journal of Hepatology|February 7, 2006
Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient miceMitsuaki Moriyama, Meng Xian Li, Keiko Kobayashi, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid typeMuhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Mariam Al-Ali, et al.
The Journal of Investigative Dermatology|January 29, 2005
A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1Muhammad Arshad Rafiq, Mohammad Faiyaz-Ul-Haque, Mohammad Amin Ud Din, et al.
Molecular and Cellular Biology|January 1, 2004
Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemiaDavid S Sinasac, Mitsuaki Moriyama, M Abdul Jalil, et al.
American Journal of Medical Genetics|July 19, 2002
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasiaMuhammad Faiyaz-Ul-Haque, Wasim Ahmad, Abdul Wahab, et al.
Atherosclerosis|September 9, 2008
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndromeMuhammad Faiyaz-Ul-Haque, Syed H E Zaidi, Nouriyah Al-Sanna, et al.
Human Genetics|June 5, 2003
Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitisSunil Sheth, Julie C Shea, Michele D Bishop, et al.
The Journal of Clinical Investigation|February 23, 2008
Complex two-gene modulation of lung disease severity in children with cystic fibrosisRuslan Dorfman, Andrew Sandford, Chelsea Taylor, et al.
Human Molecular Genetics|April 30, 2003
Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humansXiao-Yan Wen, Robert A Hegele, Jian Wang, et al.
The Journal of Biological Chemistry|June 27, 2007
Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiencyTakeyori Saheki, Mikio Iijima, Meng Xian Li, et al.
Pageof 4