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Journal of Genetic Counseling
|
December 16, 2015
Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia
Kimberly Splinter, Anna-Kaisa Niemi, Rachel Cox, et al.
Journal of Quantitative Spectroscopy & Radiative Transfer
|
December 12, 2017
Line intensities and temperature-dependent line broadening coefficients of Q-branch transitions in the v<sub>2</sub> band of ammonia near 10.4 μm
Ritobrata Sur, R Mitchell Spearrin, Wen Y Peng, et al.
Glycobiology
|
April 23, 2015
A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts
Ping He, Jeff E Grotzke, Bobby G Ng, et al.
Pediatric Transplantation
|
April 25, 2022
Outcomes after liver transplantation in MPV17 deficiency (Navajo neurohepatopathy): A single-center case series
Alice C Huang, Noelle H Ebel, Danielle Romero, et al.
Molecular Genetics and Metabolism
|
April 23, 2022
Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program
Jerry Vockley, Gregory M Enns, Antonio Nino Ramirez, et al.
Biological Chemistry
|
May 19, 2005
Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function
André B P Van Kuilenburg, Rutger Meinsma, Eva Beke, et al.
Pediatrics
|
August 3, 2004
Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum
Melanie A Manning, Suzanne B Cassidy, Carol Clericuzio, et al.
Pediatric Transplantation
|
August 13, 2009
Long-term outcome following pediatric liver transplantation for metabolic disorders
Terrell Stevenson, Maria T Millan, Karen Wayman, et al.
Plos One
|
June 19, 2014
Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status
Gregory M Enns, Tereza Moore, Anthony Le, et al.
Pediatric Transplantation
|
January 26, 2013
Liver transplantation for urea cycle disorders in pediatric patients: a single-center experience
Irene K Kim, Anna-Kaisa Niemi, Casey Krueger, et al.
Page
of 14
Search research articles
Search
Showing results (51-60 of 135) with videos related to
Sort By:
Page
of 14
Journal of Genetic Counseling
|
December 16, 2015
Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia
Kimberly Splinter, Anna-Kaisa Niemi, Rachel Cox, et al.
Journal of Quantitative Spectroscopy & Radiative Transfer
|
December 12, 2017
Line intensities and temperature-dependent line broadening coefficients of Q-branch transitions in the v<sub>2</sub> band of ammonia near 10.4 μm
Ritobrata Sur, R Mitchell Spearrin, Wen Y Peng, et al.
Glycobiology
|
April 23, 2015
A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts
Ping He, Jeff E Grotzke, Bobby G Ng, et al.
Pediatric Transplantation
|
April 25, 2022
Outcomes after liver transplantation in MPV17 deficiency (Navajo neurohepatopathy): A single-center case series
Alice C Huang, Noelle H Ebel, Danielle Romero, et al.
Molecular Genetics and Metabolism
|
April 23, 2022
Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program
Jerry Vockley, Gregory M Enns, Antonio Nino Ramirez, et al.
Biological Chemistry
|
May 19, 2005
Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function
André B P Van Kuilenburg, Rutger Meinsma, Eva Beke, et al.
Pediatrics
|
August 3, 2004
Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum
Melanie A Manning, Suzanne B Cassidy, Carol Clericuzio, et al.
Pediatric Transplantation
|
August 13, 2009
Long-term outcome following pediatric liver transplantation for metabolic disorders
Terrell Stevenson, Maria T Millan, Karen Wayman, et al.
Plos One
|
June 19, 2014
Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status
Gregory M Enns, Tereza Moore, Anthony Le, et al.
Pediatric Transplantation
|
January 26, 2013
Liver transplantation for urea cycle disorders in pediatric patients: a single-center experience
Irene K Kim, Anna-Kaisa Niemi, Casey Krueger, et al.
Page
of 14