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Journal of Inherited Metabolic Disease
|
July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
Ruqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Cell Metabolism
|
August 11, 2016
Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents
Sumeet A Khetarpal, Katrine T Schjoldager, Christina Christoffersen, et al.
Brain : a Journal of Neurology
|
April 16, 2020
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function
Monica Zilmer, Andrew C Edmondson, Sumeet A Khetarpal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 18, 2022
Expanding the phenotypic spectrum of ARCN1-related syndrome
Alyssa L Ritter, Jessica Gold, Hiroshi Hayashi, et al.
Molecular Genetics and Metabolism
|
July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
Christina Lam, Fernando Scaglia, Gerard T Berry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 11, 2021
PIGG variant pathogenicity assessment reveals characteristic features within 19 families
Camille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, et al.
Brain : a Journal of Neurology
|
March 8, 2024
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders
Jai Sidpra, Sniya Sudhakar, Asthik Biswas, et al.
Plos One
|
November 1, 2008
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies
Brendan J Keating, Sam Tischfield, Sarah S Murray, et al.
Human Mutation
|
March 1, 2019
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
Bobby G Ng, Paulina Sosicka, Satish Agadi, et al.
JAMA
|
July 6, 2016
Effect of Deutetrabenazine on Chorea Among Patients With Huntington Disease: A Randomized Clinical Trial
, Samuel Frank, Claudia M Testa, et al.
Page
of 14
Search research articles
Search
Showing results (121-130 of 132) with videos related to
Sort By:
Page
of 14
Journal of Inherited Metabolic Disease
|
July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
Ruqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Cell Metabolism
|
August 11, 2016
Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents
Sumeet A Khetarpal, Katrine T Schjoldager, Christina Christoffersen, et al.
Brain : a Journal of Neurology
|
April 16, 2020
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function
Monica Zilmer, Andrew C Edmondson, Sumeet A Khetarpal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 18, 2022
Expanding the phenotypic spectrum of ARCN1-related syndrome
Alyssa L Ritter, Jessica Gold, Hiroshi Hayashi, et al.
Molecular Genetics and Metabolism
|
July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
Christina Lam, Fernando Scaglia, Gerard T Berry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 11, 2021
PIGG variant pathogenicity assessment reveals characteristic features within 19 families
Camille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, et al.
Brain : a Journal of Neurology
|
March 8, 2024
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders
Jai Sidpra, Sniya Sudhakar, Asthik Biswas, et al.
Plos One
|
November 1, 2008
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies
Brendan J Keating, Sam Tischfield, Sarah S Murray, et al.
Human Mutation
|
March 1, 2019
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
Bobby G Ng, Paulina Sosicka, Satish Agadi, et al.
JAMA
|
July 6, 2016
Effect of Deutetrabenazine on Chorea Among Patients With Huntington Disease: A Randomized Clinical Trial
, Samuel Frank, Claudia M Testa, et al.
Page
of 14