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Human Genetics
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September 10, 1999
The frequency of lysosomal storage diseases in The Netherlands
B J Poorthuis, R A Wevers, W J Kleijer, et al.
Human Genetics
|
September 1, 1995
Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant
J A Luyten, P W Wenink, G C Steenbergen-Spanjers, et al.
Pediatric Research
|
May 1, 2001
Hypoxia in fetal lambs: a study with (1)H-MNR spectroscopy of cerebrospinal fluid
A M van Cappellen van Walsum, H W Jongsma, R A Wevers, et al.
Clinical Genetics
|
May 8, 2010
Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations
J M Drijvers, D J Lefeber, S A de Munnik, et al.
Human Genetics
|
July 29, 2000
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
T Imbach, S Grünewald, B Schenk, et al.
Neurology
|
May 26, 2004
Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF
B E Assmann, R O Robinson, R A H Surtees, et al.
Journal of Inherited Metabolic Disease
|
March 21, 1998
Oligosaccharide excretion in adult Gaucher disease
J G de Jong, J M Aerts, S van Weely, et al.
The Netherlands Journal of Medicine
|
August 5, 2000
Clinical significance of low cobalamin levels in older hospital patients
D Z van Asselt, H J Blom, R Zuiderent, et al.
Human Genetics
|
August 14, 1998
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population
L P van den Heuvel, B Luiten, J A Smeitink, et al.
Annals of Neurology
|
July 17, 1998
Genetic characteristics of myoadenylate deaminase deficiency
H T Verzijl, B G van Engelen, J A Luyten, et al.
Page
of 23
Search research articles
Search
Showing results (171-180 of 222) with videos related to
Sort By:
Page
of 23
Human Genetics
|
September 10, 1999
The frequency of lysosomal storage diseases in The Netherlands
B J Poorthuis, R A Wevers, W J Kleijer, et al.
Human Genetics
|
September 1, 1995
Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant
J A Luyten, P W Wenink, G C Steenbergen-Spanjers, et al.
Pediatric Research
|
May 1, 2001
Hypoxia in fetal lambs: a study with (1)H-MNR spectroscopy of cerebrospinal fluid
A M van Cappellen van Walsum, H W Jongsma, R A Wevers, et al.
Clinical Genetics
|
May 8, 2010
Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations
J M Drijvers, D J Lefeber, S A de Munnik, et al.
Human Genetics
|
July 29, 2000
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
T Imbach, S Grünewald, B Schenk, et al.
Neurology
|
May 26, 2004
Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF
B E Assmann, R O Robinson, R A H Surtees, et al.
Journal of Inherited Metabolic Disease
|
March 21, 1998
Oligosaccharide excretion in adult Gaucher disease
J G de Jong, J M Aerts, S van Weely, et al.
The Netherlands Journal of Medicine
|
August 5, 2000
Clinical significance of low cobalamin levels in older hospital patients
D Z van Asselt, H J Blom, R Zuiderent, et al.
Human Genetics
|
August 14, 1998
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population
L P van den Heuvel, B Luiten, J A Smeitink, et al.
Annals of Neurology
|
July 17, 1998
Genetic characteristics of myoadenylate deaminase deficiency
H T Verzijl, B G van Engelen, J A Luyten, et al.
Page
of 23