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June 19, 2001
Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2
L Heykants, E Schollen, S Grünewald, et al.
European Journal of Human Genetics : EJHG
|
October 22, 1998
Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family
E Legius, E Schollen, G Matthijs, et al.
Clinical Chemistry
|
January 1, 1997
Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy
E Schollen, P Vandenberk, J J Cassiman, et al.
Biochemical and Biophysical Research Communications
|
June 6, 1995
A regulatory element in the 5'UTR directs cell-specific expression of the mouse alpha 4 gene
E Schollen, C De Meirsman, G Matthijs, et al.
DNA and Cell Biology
|
July 1, 1996
The genomic structure of the murine alpha 4 integrin gene
C De Meirsman, M Jaspers, E Schollen, et al.
European Journal of Human Genetics : EJHG
|
June 15, 2000
Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)
E Schollen, S Kjaergaard, E Legius, et al.
Human Mutation
|
July 23, 2003
Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome
E Schollen, E Smeets, E Deflem, et al.
American Journal of Human Genetics
|
January 13, 2001
High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency)
S Grünewald, E Schollen, E Van Schaftingen, et al.
FEBS Letters
|
October 24, 1994
Stable expression of VLA-4 and increased maturation of the beta 1-integrin precursor after transfection of CHO cells with alpha 4m cDNA
M Jaspers, C de Meirsman, E Schollen, et al.
American Journal of Human Genetics
|
April 29, 1998
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A
G Matthijs, E Schollen, E Van Schaftingen, et al.
Page
of 4
Search research articles
Search
Showing results (1-10 of 36) with videos related to
Sort By:
Page
of 4
Gene
|
June 19, 2001
Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2
L Heykants, E Schollen, S Grünewald, et al.
European Journal of Human Genetics : EJHG
|
October 22, 1998
Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family
E Legius, E Schollen, G Matthijs, et al.
Clinical Chemistry
|
January 1, 1997
Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy
E Schollen, P Vandenberk, J J Cassiman, et al.
Biochemical and Biophysical Research Communications
|
June 6, 1995
A regulatory element in the 5'UTR directs cell-specific expression of the mouse alpha 4 gene
E Schollen, C De Meirsman, G Matthijs, et al.
DNA and Cell Biology
|
July 1, 1996
The genomic structure of the murine alpha 4 integrin gene
C De Meirsman, M Jaspers, E Schollen, et al.
European Journal of Human Genetics : EJHG
|
June 15, 2000
Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)
E Schollen, S Kjaergaard, E Legius, et al.
Human Mutation
|
July 23, 2003
Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome
E Schollen, E Smeets, E Deflem, et al.
American Journal of Human Genetics
|
January 13, 2001
High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency)
S Grünewald, E Schollen, E Van Schaftingen, et al.
FEBS Letters
|
October 24, 1994
Stable expression of VLA-4 and increased maturation of the beta 1-integrin precursor after transfection of CHO cells with alpha 4m cDNA
M Jaspers, C de Meirsman, E Schollen, et al.
American Journal of Human Genetics
|
April 29, 1998
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A
G Matthijs, E Schollen, E Van Schaftingen, et al.
Page
of 4