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American Journal of Human Genetics
|
July 1, 1995
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype
V E Shih, J M Fringer, R Mandell, et al.
Annals of Internal Medicine
|
October 6, 1997
Hepatic glutamine synthetase deficiency in fatal hyperammonemia after lung transplantation
M Tuchman, G R Lichtenstein, B S Rajagopal, et al.
Nature Communications
|
May 8, 2024
Predicting vaccine effectiveness for mpox
Matthew T Berry, Shanchita R Khan, Timothy E Schlub, et al.
Journal of Medical Screening
|
July 1, 1994
Use of anonymous newborn serosurveys to evaluate antenatal HIV screening programmes
F J Holland, A E Ades, C F Davison, et al.
Stem Cell Reports
|
April 12, 2023
Calorie Restriction Governs Intestinal Epithelial Regeneration through Cell-Autonomous Regulation of mTORC1 in Reserve Stem Cells
Maryam Yousefi, Angela Nakauka-Ddamba, Corbett T Berry, et al.
Stem Cell Reports
|
February 27, 2018
Calorie Restriction Governs Intestinal Epithelial Regeneration through Cell-Autonomous Regulation of mTORC1 in Reserve Stem Cells
Maryam Yousefi, Angela Nakauka-Ddamba, Corbett T Berry, et al.
Epilepsia
|
April 5, 2013
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings
Marlin Touma, Mugdha Joshi, Meghan C Connolly, et al.
Molecular Genetics and Metabolism
|
February 6, 2019
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency
Didem Demirbas, Xiaoping Huang, Vikram Daesety, et al.
Gastroenterology
|
January 1, 1997
Fatal hyperammonemia following orthotopic lung transplantation
G R Lichtenstein, L R Kaiser, M Tuchman, et al.
Human Molecular Genetics
|
December 1, 1996
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis
X Y Zhou, A van der Spoel, R Rottier, et al.
Page
of 78
Search research articles
Search
Showing results (321-330 of 780) with videos related to
Sort By:
Page
of 78
American Journal of Human Genetics
|
July 1, 1995
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype
V E Shih, J M Fringer, R Mandell, et al.
Annals of Internal Medicine
|
October 6, 1997
Hepatic glutamine synthetase deficiency in fatal hyperammonemia after lung transplantation
M Tuchman, G R Lichtenstein, B S Rajagopal, et al.
Nature Communications
|
May 8, 2024
Predicting vaccine effectiveness for mpox
Matthew T Berry, Shanchita R Khan, Timothy E Schlub, et al.
Journal of Medical Screening
|
July 1, 1994
Use of anonymous newborn serosurveys to evaluate antenatal HIV screening programmes
F J Holland, A E Ades, C F Davison, et al.
Stem Cell Reports
|
April 12, 2023
Calorie Restriction Governs Intestinal Epithelial Regeneration through Cell-Autonomous Regulation of mTORC1 in Reserve Stem Cells
Maryam Yousefi, Angela Nakauka-Ddamba, Corbett T Berry, et al.
Stem Cell Reports
|
February 27, 2018
Calorie Restriction Governs Intestinal Epithelial Regeneration through Cell-Autonomous Regulation of mTORC1 in Reserve Stem Cells
Maryam Yousefi, Angela Nakauka-Ddamba, Corbett T Berry, et al.
Epilepsia
|
April 5, 2013
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings
Marlin Touma, Mugdha Joshi, Meghan C Connolly, et al.
Molecular Genetics and Metabolism
|
February 6, 2019
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency
Didem Demirbas, Xiaoping Huang, Vikram Daesety, et al.
Gastroenterology
|
January 1, 1997
Fatal hyperammonemia following orthotopic lung transplantation
G R Lichtenstein, L R Kaiser, M Tuchman, et al.
Human Molecular Genetics
|
December 1, 1996
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis
X Y Zhou, A van der Spoel, R Rottier, et al.
Page
of 78