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Molecular Genetics and Metabolism
|
March 19, 2018
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency
Patricia L Hall, Christina Lam, John J Alexander, et al.
American Journal of Medical Genetics. Part A
|
December 15, 2018
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype
Valerie Gartner, Thomas C Markello, Ellen Macnamara, et al.
Molecular Genetics and Metabolism
|
February 13, 2017
UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment
J Vockley, B Burton, G T Berry, et al.
European Journal of Human Genetics : EJHG
|
February 20, 2014
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia
Mugdha Joshi, Jacqueline Eagan, Nirav K Desai, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 14, 2022
Genetic Determinants of Sudden Unexpected Death in Pediatrics
Hyun Yong Koh, Alireza Haghighi, Christine Keywan, et al.
Plant Biotechnology Journal
|
June 2, 2011
Transcript-specific, single-nucleotide polymorphism discovery and linkage analysis in hexaploid bread wheat (Triticum aestivum L.)
Alexandra M Allen, Gary L A Barker, Simon T Berry, et al.
Cellular and Molecular Gastroenterology and Hepatology
|
June 11, 2023
Patient-Induced Pluripotent Stem Cell-Derived Hepatostellate Organoids Establish a Basis for Liver Pathologies in Telomeropathies
Young-Jun Choi, Melissa S Kim, Joshua H Rhoades, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 1, 2019
Caspase-8 promotes c-Rel-dependent inflammatory cytokine expression and resistance against <i>Toxoplasma gondii</i>
Alexandra A DeLaney, Corbett T Berry, David A Christian, et al.
JIMD Reports
|
July 21, 2017
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals
Monica H Wojcik, Klaas J Wierenga, Lance H Rodan, et al.
Orphanet Journal of Rare Diseases
|
July 23, 2013
Fertility preservation in female classic galactosemia patients
Britt van Erven, Cynthia S Gubbels, Ron J van Golde, et al.
Page
of 78
Search research articles
Search
Showing results (371-380 of 780) with videos related to
Sort By:
Page
of 78
Molecular Genetics and Metabolism
|
March 19, 2018
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency
Patricia L Hall, Christina Lam, John J Alexander, et al.
American Journal of Medical Genetics. Part A
|
December 15, 2018
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype
Valerie Gartner, Thomas C Markello, Ellen Macnamara, et al.
Molecular Genetics and Metabolism
|
February 13, 2017
UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment
J Vockley, B Burton, G T Berry, et al.
European Journal of Human Genetics : EJHG
|
February 20, 2014
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia
Mugdha Joshi, Jacqueline Eagan, Nirav K Desai, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 14, 2022
Genetic Determinants of Sudden Unexpected Death in Pediatrics
Hyun Yong Koh, Alireza Haghighi, Christine Keywan, et al.
Plant Biotechnology Journal
|
June 2, 2011
Transcript-specific, single-nucleotide polymorphism discovery and linkage analysis in hexaploid bread wheat (Triticum aestivum L.)
Alexandra M Allen, Gary L A Barker, Simon T Berry, et al.
Cellular and Molecular Gastroenterology and Hepatology
|
June 11, 2023
Patient-Induced Pluripotent Stem Cell-Derived Hepatostellate Organoids Establish a Basis for Liver Pathologies in Telomeropathies
Young-Jun Choi, Melissa S Kim, Joshua H Rhoades, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 1, 2019
Caspase-8 promotes c-Rel-dependent inflammatory cytokine expression and resistance against <i>Toxoplasma gondii</i>
Alexandra A DeLaney, Corbett T Berry, David A Christian, et al.
JIMD Reports
|
July 21, 2017
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals
Monica H Wojcik, Klaas J Wierenga, Lance H Rodan, et al.
Orphanet Journal of Rare Diseases
|
July 23, 2013
Fertility preservation in female classic galactosemia patients
Britt van Erven, Cynthia S Gubbels, Ron J van Golde, et al.
Page
of 78