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Communications Medicine
|
September 10, 2024
Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy
Yorrick R J Jaspers, Hemmo A F Yska, Caroline G Bergner, et al.
Developmental Medicine and Child Neurology
|
December 23, 2022
Long-term outcomes for females with early-onset dystrophinopathy
Saskia L S Houwen-van Opstal, Ramon O Tak, Maaike Pelsma, et al.
Molecular Genetics and Metabolism
|
August 6, 2013
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers
Valeria Guglielmi, Gaetano Vattemi, Francesca Gualandi, et al.
Neurobiology of Aging
|
January 19, 2016
Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers
Annelot M Dekker, Meinie Seelen, Perry T C van Doormaal, et al.
Journal of Global Antimicrobial Resistance
|
November 8, 2022
HIV-1 resistance against dolutegravir fluctuates rapidly alongside erratic treatment adherence: a case report
Jeroen J A van Kampen, Hanh Thi Pham, Sunbin Yoo, et al.
The Journal of Antimicrobial Chemotherapy
|
February 4, 2026
Cooperation between HIV-1 integrase natural polymorphism K156N and 3'PPT mutations in dolutegravir monotherapy failure
Jolieke A T van Osch, Jolanda J C Voermans, Haajar Ouzerne, et al.
Molecular Genetics and Metabolism
|
December 21, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots
Federica Conte, Eva Morava, Nurulamin Abu Bakar, et al.
Journal of Neuromuscular Diseases
|
October 9, 2023
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness
Karlijn Bouman, Jan T Groothuis, Jonne Doorduin, et al.
Annals of Neurology
|
September 5, 2018
Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study
Rianne J M Goselink, Tim H A Schreuder, Nens van Alfen, et al.
Journal of Neuromuscular Diseases
|
September 6, 2024
A Likely Pathogenic variant in the <i>KBTBD13</i> Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6
Esmee S B van Kleef, Karlijn Bouman, Joery P F Molenaar, et al.
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of 35
Search research articles
Search
Showing results (291-300 of 344) with videos related to
Sort By:
Page
of 35
Communications Medicine
|
September 10, 2024
Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy
Yorrick R J Jaspers, Hemmo A F Yska, Caroline G Bergner, et al.
Developmental Medicine and Child Neurology
|
December 23, 2022
Long-term outcomes for females with early-onset dystrophinopathy
Saskia L S Houwen-van Opstal, Ramon O Tak, Maaike Pelsma, et al.
Molecular Genetics and Metabolism
|
August 6, 2013
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers
Valeria Guglielmi, Gaetano Vattemi, Francesca Gualandi, et al.
Neurobiology of Aging
|
January 19, 2016
Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers
Annelot M Dekker, Meinie Seelen, Perry T C van Doormaal, et al.
Journal of Global Antimicrobial Resistance
|
November 8, 2022
HIV-1 resistance against dolutegravir fluctuates rapidly alongside erratic treatment adherence: a case report
Jeroen J A van Kampen, Hanh Thi Pham, Sunbin Yoo, et al.
The Journal of Antimicrobial Chemotherapy
|
February 4, 2026
Cooperation between HIV-1 integrase natural polymorphism K156N and 3'PPT mutations in dolutegravir monotherapy failure
Jolieke A T van Osch, Jolanda J C Voermans, Haajar Ouzerne, et al.
Molecular Genetics and Metabolism
|
December 21, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots
Federica Conte, Eva Morava, Nurulamin Abu Bakar, et al.
Journal of Neuromuscular Diseases
|
October 9, 2023
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness
Karlijn Bouman, Jan T Groothuis, Jonne Doorduin, et al.
Annals of Neurology
|
September 5, 2018
Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study
Rianne J M Goselink, Tim H A Schreuder, Nens van Alfen, et al.
Journal of Neuromuscular Diseases
|
September 6, 2024
A Likely Pathogenic variant in the <i>KBTBD13</i> Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6
Esmee S B van Kleef, Karlijn Bouman, Joery P F Molenaar, et al.
Page
of 35