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July 27, 2024
Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions
Carlos F Mares Beltran, Christina G Tise, Rebekah Barrick, et al.
Pediatric Research
|
December 14, 1999
Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population
G M Enns, D R Martinez, A I Kuzmin, et al.
Journal of Inherited Metabolic Disease
|
February 6, 2026
Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials
Mattias Rudebeck, Nancy Braverman, Richard Chang, et al.
Journal of Medical Genetics
|
November 25, 2003
Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load
L-J C Wong, C-L Perng, C-H Hsu, et al.
Translational Vision Science & Technology
|
July 7, 2021
The Present and Future of Mitochondrial-Based Therapeutics for Eye Disease
Marco H Ji, Alexander Kreymerman, Kinsley Belle, et al.
Plos One
|
December 2, 2011
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability
Laurie H Seaver, Xue-Ying He, Keith Abe, et al.
Journal of Animal Science
|
August 21, 2004
Effect of copper, zinc, and manganese supplementation and source on reproduction, mineral status, and performance in grazing beef cattle over a two-year period
J K Ahola, D S Baker, P D Burns, et al.
Journal of Animal Science
|
February 16, 2010
Growth characteristics, reproductive performance, and evaluation of their associative relationships in Brangus cattle managed in a Chihuahuan Desert production system1
P Luna-Nevarez, D W Bailey, C C Bailey, et al.
The Journal of Pediatrics
|
January 15, 2018
A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network
Chloe M Reuter, Elise Brimble, Colette DeFilippo, et al.
Journal of Inherited Metabolic Disease
|
July 27, 2025
Long-Term Efficacy and Tolerability of Pegzilarginase in Arginase 1 Deficiency: Results of Two International Multicentre Open-Label Extension Studies
Markey McNutt, Frank Rutsch, Rossana Sanchez Russo, et al.
Page
of 21
Search research articles
Search
Showing results (121-130 of 208) with videos related to
Sort By:
Page
of 21
Genes
|
July 27, 2024
Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions
Carlos F Mares Beltran, Christina G Tise, Rebekah Barrick, et al.
Pediatric Research
|
December 14, 1999
Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population
G M Enns, D R Martinez, A I Kuzmin, et al.
Journal of Inherited Metabolic Disease
|
February 6, 2026
Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials
Mattias Rudebeck, Nancy Braverman, Richard Chang, et al.
Journal of Medical Genetics
|
November 25, 2003
Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load
L-J C Wong, C-L Perng, C-H Hsu, et al.
Translational Vision Science & Technology
|
July 7, 2021
The Present and Future of Mitochondrial-Based Therapeutics for Eye Disease
Marco H Ji, Alexander Kreymerman, Kinsley Belle, et al.
Plos One
|
December 2, 2011
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability
Laurie H Seaver, Xue-Ying He, Keith Abe, et al.
Journal of Animal Science
|
August 21, 2004
Effect of copper, zinc, and manganese supplementation and source on reproduction, mineral status, and performance in grazing beef cattle over a two-year period
J K Ahola, D S Baker, P D Burns, et al.
Journal of Animal Science
|
February 16, 2010
Growth characteristics, reproductive performance, and evaluation of their associative relationships in Brangus cattle managed in a Chihuahuan Desert production system1
P Luna-Nevarez, D W Bailey, C C Bailey, et al.
The Journal of Pediatrics
|
January 15, 2018
A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network
Chloe M Reuter, Elise Brimble, Colette DeFilippo, et al.
Journal of Inherited Metabolic Disease
|
July 27, 2025
Long-Term Efficacy and Tolerability of Pegzilarginase in Arginase 1 Deficiency: Results of Two International Multicentre Open-Label Extension Studies
Markey McNutt, Frank Rutsch, Rossana Sanchez Russo, et al.
Page
of 21