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Molecular Genetics and Metabolism
|
February 22, 2002
Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies
Susan R Hintz, Dietrich Matern, Arnold Strauss, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 7, 2011
High-quality DNA sequence capture of 524 disease candidate genes
Peidong Shen, Wenyi Wang, Sujatha Krishnakumar, et al.
JIMD Reports
|
February 20, 2020
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 14, 2018
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia
Gang Peng, Peidong Shen, Neeru Gandotra, et al.
Plos Computational Biology
|
April 25, 2009
Mapping gene associations in human mitochondria using clinical disease phenotypes
Curt Scharfe, Henry Horng-Shing Lu, Jutta K Neuenburg, et al.
Journal of Animal Breeding and Genetics = Zeitschrift Fur Tierzuchtung Und Zuchtungsbiologie
|
May 20, 2014
Use of robust multivariate linear mixed models for estimation of genetic parameters for carcass traits in beef cattle
S O Peters, K Kizilkaya, D J Garrick, et al.
Journal of Animal Science
|
March 2, 2011
Genetic analyses involving microsatellite ETH10 genotypes on bovine chromosome 5 and performance trait measures in Angus- and Brahman-influenced cattle
K L DeAtley, G Rincon, C R Farber, et al.
The Journal of Pediatrics
|
March 16, 2015
Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation
Anna-Kaisa Niemi, Irene K Kim, Casey E Krueger, et al.
Journal of Inherited Metabolic Disease
|
August 5, 2016
Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine
Natalia Gomez-Ospina, Anna I Scott, Gia J Oh, et al.
American Journal of Medical Genetics. Part A
|
October 20, 2021
Variable clinical severity in TANGO2 deficiency: Case series and literature review
Jennifer Schymick, Peter Leahy, Tina Cowan, et al.
Page
of 21
Search research articles
Search
Showing results (131-140 of 208) with videos related to
Sort By:
Page
of 21
Molecular Genetics and Metabolism
|
February 22, 2002
Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies
Susan R Hintz, Dietrich Matern, Arnold Strauss, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 7, 2011
High-quality DNA sequence capture of 524 disease candidate genes
Peidong Shen, Wenyi Wang, Sujatha Krishnakumar, et al.
JIMD Reports
|
February 20, 2020
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 14, 2018
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia
Gang Peng, Peidong Shen, Neeru Gandotra, et al.
Plos Computational Biology
|
April 25, 2009
Mapping gene associations in human mitochondria using clinical disease phenotypes
Curt Scharfe, Henry Horng-Shing Lu, Jutta K Neuenburg, et al.
Journal of Animal Breeding and Genetics = Zeitschrift Fur Tierzuchtung Und Zuchtungsbiologie
|
May 20, 2014
Use of robust multivariate linear mixed models for estimation of genetic parameters for carcass traits in beef cattle
S O Peters, K Kizilkaya, D J Garrick, et al.
Journal of Animal Science
|
March 2, 2011
Genetic analyses involving microsatellite ETH10 genotypes on bovine chromosome 5 and performance trait measures in Angus- and Brahman-influenced cattle
K L DeAtley, G Rincon, C R Farber, et al.
The Journal of Pediatrics
|
March 16, 2015
Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation
Anna-Kaisa Niemi, Irene K Kim, Casey E Krueger, et al.
Journal of Inherited Metabolic Disease
|
August 5, 2016
Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine
Natalia Gomez-Ospina, Anna I Scott, Gia J Oh, et al.
American Journal of Medical Genetics. Part A
|
October 20, 2021
Variable clinical severity in TANGO2 deficiency: Case series and literature review
Jennifer Schymick, Peter Leahy, Tina Cowan, et al.
Page
of 21