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Showing results (1251-1260 of 1,360) with videos related to
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Neurology
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December 14, 2005
Tolerance of high-dose (3,000 mg/day) coenzyme Q10 in ALS
K L Ferrante, J Shefner, H Zhang, et al.
Pediatric Neurology
|
November 16, 2016
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection
Nicole Ulrick, Amy Goldstein, Cas Simons, et al.
American Journal of Respiratory and Critical Care Medicine
|
December 17, 2021
Immune Responsiveness to LPS Determines Risk of Childhood Wheeze and Asthma in 17q21 Risk Allele Carriers
Sabina Illi, Martin Depner, Petra Ina Pfefferle, et al.
The Lancet. Neurology
|
February 19, 2022
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
Kristina Ibañez, James Polke, R Tanner Hagelstrom, et al.
American Journal of Human Genetics
|
March 31, 2015
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect
Cas Simons, Laurie B Griffin, Guy Helman, et al.
Plos Pathogens
|
September 7, 2021
Novel virus-like nanoparticle vaccine effectively protects animal model from SARS-CoV-2 infection
Qibin Geng, Wanbo Tai, Victoria K Baxter, et al.
Genome Biology
|
April 30, 2020
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
Egor Dolzhenko, Mark F Bennett, Phillip A Richmond, et al.
HGG Advances
|
October 1, 2025
Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder
Brianna L DiSanza, Giulia S Porcari, Livia Sertori Finoti, et al.
Mbio
|
February 6, 2020
The Aspergillus fumigatus Phosphoproteome Reveals Roles of High-Osmolarity Glycerol Mitogen-Activated Protein Kinases in Promoting Cell Wall Damage and Caspofungin Tolerance
Eliciane Cevolani Mattos, Lilian Pereira Silva, Clara Valero, 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.
Page
of 136
Search research articles
Search
Showing results (1251-1260 of 1,360) with videos related to
Sort By:
Page
of 136
Neurology
|
December 14, 2005
Tolerance of high-dose (3,000 mg/day) coenzyme Q10 in ALS
K L Ferrante, J Shefner, H Zhang, et al.
Pediatric Neurology
|
November 16, 2016
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection
Nicole Ulrick, Amy Goldstein, Cas Simons, et al.
American Journal of Respiratory and Critical Care Medicine
|
December 17, 2021
Immune Responsiveness to LPS Determines Risk of Childhood Wheeze and Asthma in 17q21 Risk Allele Carriers
Sabina Illi, Martin Depner, Petra Ina Pfefferle, et al.
The Lancet. Neurology
|
February 19, 2022
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
Kristina Ibañez, James Polke, R Tanner Hagelstrom, et al.
American Journal of Human Genetics
|
March 31, 2015
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect
Cas Simons, Laurie B Griffin, Guy Helman, et al.
Plos Pathogens
|
September 7, 2021
Novel virus-like nanoparticle vaccine effectively protects animal model from SARS-CoV-2 infection
Qibin Geng, Wanbo Tai, Victoria K Baxter, et al.
Genome Biology
|
April 30, 2020
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
Egor Dolzhenko, Mark F Bennett, Phillip A Richmond, et al.
HGG Advances
|
October 1, 2025
Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder
Brianna L DiSanza, Giulia S Porcari, Livia Sertori Finoti, et al.
Mbio
|
February 6, 2020
The Aspergillus fumigatus Phosphoproteome Reveals Roles of High-Osmolarity Glycerol Mitogen-Activated Protein Kinases in Promoting Cell Wall Damage and Caspofungin Tolerance
Eliciane Cevolani Mattos, Lilian Pereira Silva, Clara Valero, 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.
Page
of 136