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Human Heredity
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July 1, 1996
Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis
C J van der Sijs-Bos, C M Diepstraten, J A Juyn, et al.
American Journal of Human Genetics
|
October 31, 2000
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis
L W Klomp, T J de Koning, H E Malingré, et al.
Brain : a Journal of Neurology
|
February 1, 2014
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study
Marc Engelen, Mathieu Barbier, Inge M E Dijkstra, et al.
Biochemical and Biophysical Research Communications
|
May 16, 1998
A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency
T J de Koning, L Dorland, O P van Diggelen, et al.
Psychological Medicine
|
March 9, 2016
Feedback learning and behavior problems after pediatric traumatic brain injury
M Königs, L W E van Heurn, R J Vermeulen, et al.
Neurology
|
August 2, 2008
Prognostic factors after a first attack of inflammatory CNS demyelination in children
R F Neuteboom, M Boon, C E Catsman Berrevoets, et al.
Nature Genetics
|
June 16, 1999
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
S M Houten, W Kuis, M Duran, et al.
Journal of Inherited Metabolic Disease
|
August 7, 2001
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates
L J Spaapen, J A Bakker, C Velter, et al.
Archives of Biochemistry and Biophysics
|
January 24, 1998
A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients
C H Casale, N Casals, J Pié, et al.
Biochimica Et Biophysica Acta
|
July 17, 2012
Patient-derived fibroblasts indicate oxidative stress status and may justify antioxidant therapy in OXPHOS disorders
A M Voets, P J Lindsey, S J Vanherle, et al.
Page
of 14
Search research articles
Search
Showing results (121-130 of 136) with videos related to
Sort By:
Page
of 14
Human Heredity
|
July 1, 1996
Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis
C J van der Sijs-Bos, C M Diepstraten, J A Juyn, et al.
American Journal of Human Genetics
|
October 31, 2000
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis
L W Klomp, T J de Koning, H E Malingré, et al.
Brain : a Journal of Neurology
|
February 1, 2014
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study
Marc Engelen, Mathieu Barbier, Inge M E Dijkstra, et al.
Biochemical and Biophysical Research Communications
|
May 16, 1998
A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency
T J de Koning, L Dorland, O P van Diggelen, et al.
Psychological Medicine
|
March 9, 2016
Feedback learning and behavior problems after pediatric traumatic brain injury
M Königs, L W E van Heurn, R J Vermeulen, et al.
Neurology
|
August 2, 2008
Prognostic factors after a first attack of inflammatory CNS demyelination in children
R F Neuteboom, M Boon, C E Catsman Berrevoets, et al.
Nature Genetics
|
June 16, 1999
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
S M Houten, W Kuis, M Duran, et al.
Journal of Inherited Metabolic Disease
|
August 7, 2001
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates
L J Spaapen, J A Bakker, C Velter, et al.
Archives of Biochemistry and Biophysics
|
January 24, 1998
A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients
C H Casale, N Casals, J Pié, et al.
Biochimica Et Biophysica Acta
|
July 17, 2012
Patient-derived fibroblasts indicate oxidative stress status and may justify antioxidant therapy in OXPHOS disorders
A M Voets, P J Lindsey, S J Vanherle, et al.
Page
of 14