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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.
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.
Journal of Thrombosis and Haemostasis : JTH
|
May 24, 2016
Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect
M E de la Morena-Barrio, I Martínez-Martínez, C de Cos, et al.
Neuromuscular Disorders : NMD
|
February 14, 2017
PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose
N C Voermans, N Preisler, K L Madsen, et al.
JIMD Reports
|
May 13, 2024
Oral ribose supplementation in dystroglycanopathy: A single case study
R M J Thewissen, M A Post, D M Maas, et al.
Biochimica Et Biophysica Acta
|
March 3, 2011
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern
M Mohamed, M Guillard, S B Wortmann, et al.
Infection and Immunity
|
July 12, 2021
Examining the Distribution and Impact of Single-Nucleotide Polymorphisms in the Capsular Locus of Streptococcus pneumoniae Serotype 19A
D W Arends, W R Miellet, J D Langereis, et al.
Bone Marrow Transplantation
|
November 3, 2010
Adult metachromatic leukodystrophy treated by allo-SCT and a review of the literature
L D de Hosson, B P C van de Warrenburg, F W M B Preijers, et al.
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of 3
Search research articles
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Showing results (21-30 of 29) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 29 results.
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.
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.
Journal of Thrombosis and Haemostasis : JTH
|
May 24, 2016
Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect
M E de la Morena-Barrio, I Martínez-Martínez, C de Cos, et al.
Neuromuscular Disorders : NMD
|
February 14, 2017
PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose
N C Voermans, N Preisler, K L Madsen, et al.
JIMD Reports
|
May 13, 2024
Oral ribose supplementation in dystroglycanopathy: A single case study
R M J Thewissen, M A Post, D M Maas, et al.
Biochimica Et Biophysica Acta
|
March 3, 2011
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern
M Mohamed, M Guillard, S B Wortmann, et al.
Infection and Immunity
|
July 12, 2021
Examining the Distribution and Impact of Single-Nucleotide Polymorphisms in the Capsular Locus of Streptococcus pneumoniae Serotype 19A
D W Arends, W R Miellet, J D Langereis, et al.
Bone Marrow Transplantation
|
November 3, 2010
Adult metachromatic leukodystrophy treated by allo-SCT and a review of the literature
L D de Hosson, B P C van de Warrenburg, F W M B Preijers, et al.
Page
of 3