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1 . Academic Journal
Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect
저자
by
Tom E. J. Theunissen
;
Mike Gerards
;
Debby M. E. I. Hellebrekers
;
Florence H. van Tienen
;
Rick Kamps
, et al.
소스
Frontiers in Molecular Neuroscience, Vol 10 (2017)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome
저자
by
Margrit Frentzen
;
B.J.C. van den Bosch
;
L.E.A. de Wit
;
Alexandra T.M. Hendrickx
;
I.F.M. de Coo
, et al.
소스
Journal of Medical Genetics, 47(8), 507-12. BMJ Publishing Group
Journal of Medical Genetics
Journal of Medical Genetics, 47(8), 507-512. BMJ Publishing Group
Full Text (BMJ Journals)
Open Access (OpenAIRE)
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7 .
Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene
저자
by
H.F.M. Busch
;
I.F.M. de Coo
;
B.J.C. van den Bosch
;
G. de Jong
;
Hans R. Scholte
, et al.
소스
Neuromuscular Disorders, 14, 683-688. Elsevier Ltd.
Web of Science
Scopus
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7 .
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency
저자
by
R. Rodrigues Pereira
;
L.M. Hussaarts-Odijk
;
Frédéric M. Vaz
;
Jos P.N. Ruiter
;
Hans R. Scholte
, et al.
소스
Human Genetics
. 105:157-161
Full Text (Springer)
Web of Science
Scopus
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7 .
Steady-state levels of subunits of respiratory chain enzymes: clues to the primary genetic defect in cytochrome c oxidase deficiencies
저자
by
Anthony H.V. Schapira
;
Sion Williams
;
J. W. Taanman
;
Hans R. Scholte
.
소스
Genetical Research
. 72:59-72
Open Access (OpenAIRE)
Web of Science
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6 .
Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: a disorder in three unrelated Dutch families
저자
by
Ronald J.A. Wanders
;
Joan van Moorsel
;
Peter G. Barth
;
Wim Ruitenbeek
;
Koert P. Dingemans
, et al.
소스
Neuromuscular disorders, 8(5), 296-304. Elsevier Limited
Neuromuscular Disorders, 8, 296-304
Neuromuscular Disorders, 8, pp. 296-304
Neuromuscular Disorders, 8, 296-304. Elsevier Ltd.
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7 .
[Untitled]
저자
by
Yihong Yu
;
Adriana M.C. Boonman
;
H.F.M. Busch
;
John D Ross
;
Imma I. Oosterkamp
, et al.
소스
Molecular and Cellular Biochemistry
. 174:61-66
Full Text (Springer)
Open Access (OpenAIRE)
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7 .
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome
저자
by
Ilham Ratbi
;
Eveline Jongen
;
Kees Schoonderwoerd
;
Rick Kamps
;
Bianca J.C. van den Bosch
, et al.
소스
Brain, 136, 882-890. Oxford University Press
Brain, 136(Pt 3), 882-90. Oxford University Press
Full Text (OUP)
Full Text (OUP Near Archive)
Open Access (OpenAIRE)
Scopus
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7 .
Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia
저자
by
Hans R. Scholte
;
W. Onkenhout
;
P.D. Maaswinkel-Mooij
;
C. Van den Bogert
;
Ben J. H. M. Poorthuis
, et al.
소스
Journal of pediatrics, 128(5 Part 1), 679-683. Mosby Inc.
Web of Science
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7 .
Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease
저자
by
Henk D. Bakker
;
Van den Bogert Coby
;
Hans R. Scholte
;
Frits A. Wijburg
;
Koert P. Dingemans
, et al.
소스
Journal of pediatrics, 128(5 Part 1), 683-687. Mosby Inc.
Full Text (ScienceDirect)
Web of Science
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