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Nature Reviews. Disease Primers
|
September 21, 2019
Chromosome instability syndromes
A Malcolm R Taylor, Cynthia Rothblum-Oviatt, Nathan A Ellis, et al.
Neurology
|
March 16, 2011
Loss of sarcolemmal nNOS is common in acquired and inherited neuromuscular disorders
E L Finanger Hedderick, J L Simmers, A Soleimani, et al.
Orphanet Journal of Rare Diseases
|
March 11, 2021
Growth in ataxia telangiectasia
Valerie A I Natale, Tim J Cole, Cynthia Rothblum-Oviatt, et al.
Human Mutation
|
July 26, 2011
Functional consequences and structural interpretation of mutations of human choline acetyltransferase
Xin-Ming Shen, Thomas O Crawford, Joan Brengman, et al.
Journal of Pediatric Hematology/Oncology
|
November 20, 2019
Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia
Sei-Gyung K Sze, Howard M Lederman, Thomas O Crawford, et al.
Human Molecular Genetics
|
August 1, 1997
The survival motor neuron protein in spinal muscular atrophy
D D Coovert, T T Le, P E McAndrew, et al.
Annals of Neurology
|
July 28, 2016
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction
Jessica Duis, Shannon Dean, Carolyn Applegate, et al.
Plos One
|
January 10, 2013
Diabetes medication use and blood lactate level among participants with type 2 diabetes: the atherosclerosis risk in communities carotid MRI study
Morgana L Mongraw-Chaffin, Kunihiro Matsushita, Frederick L Brancati, et al.
Neuromuscular Disorders : NMD
|
March 11, 2026
A prospective, multi-center, observational study of the safety, tolerability and effectiveness of Nusinersen in adult patients with spinal muscular atrophy
Craig M Zaidman, Crystal Proud, Bing M Liao, et al.
Journal of Neuromuscular Diseases
|
July 17, 2023
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development
Jacqueline Glascock, Basil T Darras, Thomas O Crawford, et al.
Page
of 19
Search research articles
Search
Showing results (131-140 of 190) with videos related to
Sort By:
Page
of 19
Nature Reviews. Disease Primers
|
September 21, 2019
Chromosome instability syndromes
A Malcolm R Taylor, Cynthia Rothblum-Oviatt, Nathan A Ellis, et al.
Neurology
|
March 16, 2011
Loss of sarcolemmal nNOS is common in acquired and inherited neuromuscular disorders
E L Finanger Hedderick, J L Simmers, A Soleimani, et al.
Orphanet Journal of Rare Diseases
|
March 11, 2021
Growth in ataxia telangiectasia
Valerie A I Natale, Tim J Cole, Cynthia Rothblum-Oviatt, et al.
Human Mutation
|
July 26, 2011
Functional consequences and structural interpretation of mutations of human choline acetyltransferase
Xin-Ming Shen, Thomas O Crawford, Joan Brengman, et al.
Journal of Pediatric Hematology/Oncology
|
November 20, 2019
Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia
Sei-Gyung K Sze, Howard M Lederman, Thomas O Crawford, et al.
Human Molecular Genetics
|
August 1, 1997
The survival motor neuron protein in spinal muscular atrophy
D D Coovert, T T Le, P E McAndrew, et al.
Annals of Neurology
|
July 28, 2016
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction
Jessica Duis, Shannon Dean, Carolyn Applegate, et al.
Plos One
|
January 10, 2013
Diabetes medication use and blood lactate level among participants with type 2 diabetes: the atherosclerosis risk in communities carotid MRI study
Morgana L Mongraw-Chaffin, Kunihiro Matsushita, Frederick L Brancati, et al.
Neuromuscular Disorders : NMD
|
March 11, 2026
A prospective, multi-center, observational study of the safety, tolerability and effectiveness of Nusinersen in adult patients with spinal muscular atrophy
Craig M Zaidman, Crystal Proud, Bing M Liao, et al.
Journal of Neuromuscular Diseases
|
July 17, 2023
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development
Jacqueline Glascock, Basil T Darras, Thomas O Crawford, et al.
Page
of 19