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Molecular Genetics and Metabolism
|
May 23, 2026
Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD)
Anjana Sevagamoorthy, Sarah Woidill, Gabrielle Sudilovsky, et al.
Journal of Inherited Metabolic Disease
|
April 24, 2026
Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies
M I Mendes, D E Smith, V Spek, et al.
Neurology
|
October 24, 2014
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
Nicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, et al.
American Journal of Human Genetics
|
March 27, 2018
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy
Marisa I Mendes, Mariana Gutierrez Salazar, Kether Guerrero, et al.
American Journal of Human Genetics
|
October 8, 2019
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy
Huifang Yan, Guy Helman, Swetha E Murthy, et al.
Biology Direct
|
July 3, 2008
Complete genome sequence of the extremely acidophilic methanotroph isolate V4, Methylacidiphilum infernorum, a representative of the bacterial phylum Verrucomicrobia
Shaobin Hou, Kira S Makarova, Jimmy H W Saw, et al.
Journal of Virology
|
September 20, 2024
Promotion of order <i>Bunyavirales</i> to class <i>Bunyaviricetes</i> to accommodate a rapidly increasing number of related polyploviricotine viruses
Jens H Kuhn, Katherine Brown, Scott Adkins, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 8, 2018
Aminoacyl-tRNA synthetase deficiencies in search of common themes
Sabine A Fuchs, Imre F Schene, Gautam Kok, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 12, 2025
Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder
Hemmo A F Yska, Marianne Golse, Shanice Beerepoot, et al.
Nature Immunology
|
May 27, 2014
The transcription factor Foxp1 is a critical negative regulator of the differentiation of follicular helper T cells
Haikun Wang, Jianlin Geng, Xiaomin Wen, et al.
Page
of 90
Search research articles
Search
Showing results (821-830 of 898) with videos related to
Sort By:
Page
of 90
Molecular Genetics and Metabolism
|
May 23, 2026
Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD)
Anjana Sevagamoorthy, Sarah Woidill, Gabrielle Sudilovsky, et al.
Journal of Inherited Metabolic Disease
|
April 24, 2026
Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies
M I Mendes, D E Smith, V Spek, et al.
Neurology
|
October 24, 2014
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
Nicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, et al.
American Journal of Human Genetics
|
March 27, 2018
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy
Marisa I Mendes, Mariana Gutierrez Salazar, Kether Guerrero, et al.
American Journal of Human Genetics
|
October 8, 2019
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy
Huifang Yan, Guy Helman, Swetha E Murthy, et al.
Biology Direct
|
July 3, 2008
Complete genome sequence of the extremely acidophilic methanotroph isolate V4, Methylacidiphilum infernorum, a representative of the bacterial phylum Verrucomicrobia
Shaobin Hou, Kira S Makarova, Jimmy H W Saw, et al.
Journal of Virology
|
September 20, 2024
Promotion of order <i>Bunyavirales</i> to class <i>Bunyaviricetes</i> to accommodate a rapidly increasing number of related polyploviricotine viruses
Jens H Kuhn, Katherine Brown, Scott Adkins, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 8, 2018
Aminoacyl-tRNA synthetase deficiencies in search of common themes
Sabine A Fuchs, Imre F Schene, Gautam Kok, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 12, 2025
Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder
Hemmo A F Yska, Marianne Golse, Shanice Beerepoot, et al.
Nature Immunology
|
May 27, 2014
The transcription factor Foxp1 is a critical negative regulator of the differentiation of follicular helper T cells
Haikun Wang, Jianlin Geng, Xiaomin Wen, et al.
Page
of 90