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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2012
Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships
Kristen Lipscomb Sund, Sarah L Zimmerman, Cameron Thomas, et al.
Chembiochem : a European Journal of Chemical Biology
|
May 7, 2014
Resveratrol and its metabolites bind to PPARs
E Calleri, G Pochetti, K S S Dossou, et al.
American Journal of Physiology. Renal Physiology
|
January 30, 2003
Expression of SSAT, a novel biomarker of tubular cell damage, increases in kidney ischemia-reperfusion injury
Kamyar Zahedi, Zhaohui Wang, Sharon Barone, et al.
Neurocirugia (Asturias, Spain)
|
November 16, 2006
[Giant arteriovenous malformation of the scalp. Case report]
M García-Conde, L Martín-Viota, P Febles-García, et al.
European Journal of Medical Genetics
|
December 16, 2014
Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease
Ives T Villamizar-Schiller, Laudy A Pabón, Sophia B Hufnagel, et al.
Pediatrics
|
July 11, 2012
Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy
Carlos E Prada, John L Jefferies, Michelle A Grenier, et al.
American Journal of Medical Genetics. Part A
|
December 28, 2020
Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females
Kathryn Clarkston, Joy Lee, Sarah Donoghue, et al.
Pediatric Neurology
|
March 30, 2023
Motor Function and Physiology in Youth With Neurofibromatosis Type 1
Alexander C Doherty, David A Huddleston, Paul S Horn, et al.
Pediatric Neurology
|
May 22, 2026
A Randomized, Double-Blind, Pilot Study of N-Acetylcysteine for Motor and Cognitive Symptoms in Youth With Neurofibromatosis Type 1
Donald L Gilbert, Lindsey E Aschbacher-Smith, Karlee Y Migneault, et al.
Molecular Genetics and Metabolism
|
June 4, 2026
Real-world experience with sepiapterin in phenylketonuria: A single-center retrospective analysis
Erika R Vucko, Katie Arduini, Karen Becker, et al.
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of 16
Search research articles
Search
Showing results (91-100 of 155) with videos related to
Sort By:
Page
of 16
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2012
Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships
Kristen Lipscomb Sund, Sarah L Zimmerman, Cameron Thomas, et al.
Chembiochem : a European Journal of Chemical Biology
|
May 7, 2014
Resveratrol and its metabolites bind to PPARs
E Calleri, G Pochetti, K S S Dossou, et al.
American Journal of Physiology. Renal Physiology
|
January 30, 2003
Expression of SSAT, a novel biomarker of tubular cell damage, increases in kidney ischemia-reperfusion injury
Kamyar Zahedi, Zhaohui Wang, Sharon Barone, et al.
Neurocirugia (Asturias, Spain)
|
November 16, 2006
[Giant arteriovenous malformation of the scalp. Case report]
M García-Conde, L Martín-Viota, P Febles-García, et al.
European Journal of Medical Genetics
|
December 16, 2014
Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease
Ives T Villamizar-Schiller, Laudy A Pabón, Sophia B Hufnagel, et al.
Pediatrics
|
July 11, 2012
Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy
Carlos E Prada, John L Jefferies, Michelle A Grenier, et al.
American Journal of Medical Genetics. Part A
|
December 28, 2020
Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females
Kathryn Clarkston, Joy Lee, Sarah Donoghue, et al.
Pediatric Neurology
|
March 30, 2023
Motor Function and Physiology in Youth With Neurofibromatosis Type 1
Alexander C Doherty, David A Huddleston, Paul S Horn, et al.
Pediatric Neurology
|
May 22, 2026
A Randomized, Double-Blind, Pilot Study of N-Acetylcysteine for Motor and Cognitive Symptoms in Youth With Neurofibromatosis Type 1
Donald L Gilbert, Lindsey E Aschbacher-Smith, Karlee Y Migneault, et al.
Molecular Genetics and Metabolism
|
June 4, 2026
Real-world experience with sepiapterin in phenylketonuria: A single-center retrospective analysis
Erika R Vucko, Katie Arduini, Karen Becker, et al.
Page
of 16