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American Journal of Medical Genetics
|
July 13, 2002
Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome
Marjan M Nezarati, Judith Loeffler, Grace Yoon, et al.
Molecular Genetics and Metabolism Reports
|
January 9, 2019
Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B
Fady Hannah-Shmouni, Lauren MacNeil, Murray Potter, et al.
JAMA Neurology
|
December 16, 2014
Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7
Heather Trang, Sabrina Y Stanley, Paul Thorner, et al.
Frontiers in Aging Neuroscience
|
June 30, 2020
Macrophages and Associated Ligands in the Aged Injured Nerve: A Defective Dynamic That Contributes to Reduced Axonal Regrowth
Jo Anne Stratton, Shane Eaton, Nicole L Rosin, et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research
|
April 8, 2017
Interferon-Stimulated Gene Expression as a Preferred Biomarker for Disease Activity in Aicardi-Goutières Syndrome
Ben X Wang, Stephanie A Grover, Peter Kannu, et al.
European Journal of Medical Genetics
|
August 22, 2020
FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy
Monika K Grudzinska Pechhacker, Grace Yoon, Lili-Naz Hazrati, et al.
Journal of Child Neurology
|
July 4, 2012
Cardiac transplantation in Friedreich ataxia
Grace Yoon, Teesta Soman, Judith Wilson, et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology
|
May 5, 2021
Exfoliated epithelial cell transcriptome reflects both small and large intestinal cell signatures in piglets
Grace Yoon, Laurie A Davidson, Jennifer S Goldsby, et al.
Neuromuscular Disorders : NMD
|
February 26, 2022
Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care
Deepak Menon, Hernan D Gonorazky, James J Dowling, et al.
Neuromuscular Disorders : NMD
|
April 12, 2026
Severe neonatal-onset PYROXD1-related myopathy with a novel homozygous missense variant: expanding the phenotypic spectrum
Zahra A Aleisa, Grace Yoon, Sylvie Friant, et al.
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of 18
Search research articles
Search
Showing results (61-70 of 177) with videos related to
Sort By:
Page
of 18
American Journal of Medical Genetics
|
July 13, 2002
Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome
Marjan M Nezarati, Judith Loeffler, Grace Yoon, et al.
Molecular Genetics and Metabolism Reports
|
January 9, 2019
Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B
Fady Hannah-Shmouni, Lauren MacNeil, Murray Potter, et al.
JAMA Neurology
|
December 16, 2014
Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7
Heather Trang, Sabrina Y Stanley, Paul Thorner, et al.
Frontiers in Aging Neuroscience
|
June 30, 2020
Macrophages and Associated Ligands in the Aged Injured Nerve: A Defective Dynamic That Contributes to Reduced Axonal Regrowth
Jo Anne Stratton, Shane Eaton, Nicole L Rosin, et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research
|
April 8, 2017
Interferon-Stimulated Gene Expression as a Preferred Biomarker for Disease Activity in Aicardi-Goutières Syndrome
Ben X Wang, Stephanie A Grover, Peter Kannu, et al.
European Journal of Medical Genetics
|
August 22, 2020
FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy
Monika K Grudzinska Pechhacker, Grace Yoon, Lili-Naz Hazrati, et al.
Journal of Child Neurology
|
July 4, 2012
Cardiac transplantation in Friedreich ataxia
Grace Yoon, Teesta Soman, Judith Wilson, et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology
|
May 5, 2021
Exfoliated epithelial cell transcriptome reflects both small and large intestinal cell signatures in piglets
Grace Yoon, Laurie A Davidson, Jennifer S Goldsby, et al.
Neuromuscular Disorders : NMD
|
February 26, 2022
Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care
Deepak Menon, Hernan D Gonorazky, James J Dowling, et al.
Neuromuscular Disorders : NMD
|
April 12, 2026
Severe neonatal-onset PYROXD1-related myopathy with a novel homozygous missense variant: expanding the phenotypic spectrum
Zahra A Aleisa, Grace Yoon, Sylvie Friant, et al.
Page
of 18