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Nicholas Ah Mew

Showing results (31-40 of 56) with videos related to

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Human Mutation|December 29, 2017
Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase geneYoon J Jang, Abigail L LaBella, Timothy P Feeney, et al.
American Journal of Medical Genetics. Part A|November 14, 2008
Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literaturePhilippe M Campeau, Nicholas Ah Mew, Lola Cartier, et al.
Plos Genetics|June 17, 2026
Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type IRussell S Lo, Gareth A Cromie, Michelle Tang, et al.
JIMD Reports|May 12, 2025
Orthotopic Liver Transplantation in a Patient With <i>GALT</i>p.Ser135Leu/NullKara Simpson, Erin L MacLeod, Julia Clayton, et al.
Pediatric Neurology|August 9, 2024
Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic CrisesMongkol Chanvanichtrakool, John M Schreiber, Wei-Liang Chen, et al.
American Journal of Medical Genetics. Part A|December 10, 2020
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysisMaxwell L Summerlin, Debra S Regier, Jamie L Fraser, et al.
American Journal of Human Genetics|May 5, 2023
The functional impact of 1,570 individual amino acid substitutions in human OTCRussell S Lo, Gareth A Cromie, Michelle Tang, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 16, 2026
Predicting epistasis across proteins by structural logicMichelle Tang, Gareth A Cromie, Anowarul Kabir, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|June 11, 2022
Domino liver transplantation: Expanding the liver donor pool to the pediatric recipientUdeme D Ekong, Sahithi Reddy, Nada Yazigi, et al.
Molecular Genetics and Metabolism|October 18, 2011
Acute management of propionic acidemiaKimberly A Chapman, Andrea Gropman, Erin MacLeod, et al.
Pageof 6

Showing results (31-40 of 56) with videos related to

Sort By:
Pageof 6
Human Mutation|December 29, 2017
Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase geneYoon J Jang, Abigail L LaBella, Timothy P Feeney, et al.
American Journal of Medical Genetics. Part A|November 14, 2008
Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literaturePhilippe M Campeau, Nicholas Ah Mew, Lola Cartier, et al.
Plos Genetics|June 17, 2026
Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type IRussell S Lo, Gareth A Cromie, Michelle Tang, et al.
JIMD Reports|May 12, 2025
Orthotopic Liver Transplantation in a Patient With <i>GALT</i>p.Ser135Leu/NullKara Simpson, Erin L MacLeod, Julia Clayton, et al.
Pediatric Neurology|August 9, 2024
Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic CrisesMongkol Chanvanichtrakool, John M Schreiber, Wei-Liang Chen, et al.
American Journal of Medical Genetics. Part A|December 10, 2020
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysisMaxwell L Summerlin, Debra S Regier, Jamie L Fraser, et al.
American Journal of Human Genetics|May 5, 2023
The functional impact of 1,570 individual amino acid substitutions in human OTCRussell S Lo, Gareth A Cromie, Michelle Tang, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 16, 2026
Predicting epistasis across proteins by structural logicMichelle Tang, Gareth A Cromie, Anowarul Kabir, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|June 11, 2022
Domino liver transplantation: Expanding the liver donor pool to the pediatric recipientUdeme D Ekong, Sahithi Reddy, Nada Yazigi, et al.
Molecular Genetics and Metabolism|October 18, 2011
Acute management of propionic acidemiaKimberly A Chapman, Andrea Gropman, Erin MacLeod, et al.
Pageof 6