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Journal of Internal Medicine
|
April 8, 2021
Cerebrotendinous xanthomatosis without neurological involvement
B M L Stelten, F J Raal, A D Marais, et al.
Molecular Genetics and Metabolism
|
November 21, 2007
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands
G J G Ruijter, M J Valstar, J M van de Kamp, et al.
Neuromuscular Disorders : NMD
|
August 15, 2017
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy
P Y K Van den Bergh, Y Sznajer, V Van Parys, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
August 28, 2010
New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype
C C S Delnooz, D J Lefeber, S M C Langemeijer, et al.
European Journal of Human Genetics : EJHG
|
November 1, 2007
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation
E Morava, D J Lefeber, Z Urban, et al.
Neuromuscular Disorders : NMD
|
December 17, 2017
Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046]
P Y K Van den Bergh, Y Sznajer, V Van Parys, et al.
Annals of Human Genetics
|
January 30, 2004
Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease
M A Martín, J C Rubio, R A Wevers, et al.
Nucleosides, Nucleotides & Nucleic Acids
|
October 27, 2006
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency
A B P van Kuilenburg, R Meinsma, B Assman, et al.
Journal of Breath Research
|
December 1, 2016
Detection of Staphylococcus aureus in cystic fibrosis patients using breath VOC profiles
A H Neerincx, B P Geurts, J van Loon, et al.
Annals of Neurology
|
June 14, 2000
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis
S Grünewald, T Imbach, K Huijben, et al.
Page
of 23
Search research articles
Search
Showing results (201-210 of 222) with videos related to
Sort By:
Page
of 23
Journal of Internal Medicine
|
April 8, 2021
Cerebrotendinous xanthomatosis without neurological involvement
B M L Stelten, F J Raal, A D Marais, et al.
Molecular Genetics and Metabolism
|
November 21, 2007
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands
G J G Ruijter, M J Valstar, J M van de Kamp, et al.
Neuromuscular Disorders : NMD
|
August 15, 2017
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy
P Y K Van den Bergh, Y Sznajer, V Van Parys, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
August 28, 2010
New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype
C C S Delnooz, D J Lefeber, S M C Langemeijer, et al.
European Journal of Human Genetics : EJHG
|
November 1, 2007
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation
E Morava, D J Lefeber, Z Urban, et al.
Neuromuscular Disorders : NMD
|
December 17, 2017
Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046]
P Y K Van den Bergh, Y Sznajer, V Van Parys, et al.
Annals of Human Genetics
|
January 30, 2004
Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease
M A Martín, J C Rubio, R A Wevers, et al.
Nucleosides, Nucleotides & Nucleic Acids
|
October 27, 2006
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency
A B P van Kuilenburg, R Meinsma, B Assman, et al.
Journal of Breath Research
|
December 1, 2016
Detection of Staphylococcus aureus in cystic fibrosis patients using breath VOC profiles
A H Neerincx, B P Geurts, J van Loon, et al.
Annals of Neurology
|
June 14, 2000
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis
S Grünewald, T Imbach, K Huijben, et al.
Page
of 23