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1 . Academic Journal
All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency
저자
by
Bruce Hayward
;
Daman Kumari
;
Saikat Santra
;
Clara D. M. van Karnebeek
;
André B. P. van Kuilenburg
, et al.
소스
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
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7 . Academic Journal
Drug repurposing in Rett and Rett-like syndromes: a promising yet underrated opportunity?
저자
by
Claudia Fuchs
;
Peter A. C. ‘t Hoen
;
Annelieke R. Müller
;
Friederike Ehrhart
;
Clara D. M. Van Karnebeek
.
소스
Frontiers in Medicine, Vol 11 (2024)
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7 . Academic Journal
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)
저자
by
Elise A. Ferreira
;
Mark J. N. Buijs
;
Robin Wijngaard
;
Joost G. Daams
;
Mareen R. Datema
, et al.
소스
Frontiers in Neurology, Vol 14 (2023)
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7 . Academic Journal
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app
저자
by
Eva M. M. Hoytema van Konijnenburg
;
Saskia B. Wortmann
;
Marina J. Koelewijn
;
Laura A. Tseng
;
Roderick Houben
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-35 (2021)
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7 . Academic Journal
D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
저자
by
Peter Witters
;
Hans Andersson
;
Jaak Jaeken
;
Laura Tseng
;
Clara D. M. van Karnebeek
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-5 (2021)
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7 . Academic Journal
Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism
저자
by
Rianne E. van Outersterp
;
Sam J. Moons
;
Udo F. H. Engelke
;
Herman Bentlage
;
Tessa M. A. Peters
, et al.
소스
Communications Biology, Vol 4, Iss 1, Pp 1-8 (2021)
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7 . Academic Journal
Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy
저자
by
Bhavi P. Modi
;
Kate L. Del Bel
;
Susan Lin
;
Mehul Sharma
;
Phillip A. Richmond
, et al.
소스
Allergy, Asthma & Clinical Immunology, Vol 17, Iss 1, Pp 1-6 (2021)
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7 . Academic Journal
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
저자
by
Bibiche den Hollander
;
Anne Rasing
;
Merel A. Post
;
Willemijn M. Klein
;
Machteld M. Oud
, et al.
소스
Frontiers in Neurology, Vol 12 (2021)
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7 . Academic Journal
2022 Overview of Metabolic Epilepsies
저자
by
Birute Tumiene
;
Carlos R. Ferreira
;
Clara D. M. van Karnebeek
.
소스
Genes, Vol 13, Iss 3, p 508 (2022)
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5 . Academic Journal
Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy
저자
by
Phillip A. Richmond
;
Frans van der Kloet
;
Frederic M. Vaz
;
David Lin
;
Anuli Uzozie
, et al.
소스
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
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