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E Schollen

Showing results (11-20 of 36) with videos related to

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European Journal of Medical Genetics|August 2, 2005
CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter)E Schollen, S Grünewald, L Keldermans, et al.
American Journal of Medical Genetics. Part A|July 21, 2004
A novel MSX1 mutation in hypodontiaS De Muynck, E Schollen, G Matthijs, et al.
The Biochemical Journal|March 23, 1999
Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymesM Pirard, Y Achouri, J F Collet, et al.
FEBS Letters|July 1, 1999
Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2M Pirard, G Matthijs, L Heykants, et al.
Genomics|February 15, 1997
PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13G Matthijs, E Schollen, M Pirard, et al.
European Journal of Human Genetics : EJHG|October 22, 1998
Prenatal diagnosis in CDG1 families: beware of heterogeneityG Matthijs, E Schollen, J J Cassiman, et al.
Journal of Medical Genetics|August 6, 2002
PTPN11 mutations in LEOPARD syndromeE Legius, C Schrander-Stumpel, E Schollen, et al.
DNA and Cell Biology|July 1, 1994
Cloning and characterization of the promoter region of the murine alpha-4 integrin subunitC De Meirsman, E Schollen, M Jaspers, et al.
Nature Genetics|May 1, 1997
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)G Matthijs, E Schollen, E Pardon, et al.
Journal of Medical Genetics|June 1, 1996
Unusual molecular findings in autosomal recessive spinal muscular atrophyG Matthijs, E Schollen, E Legius, et al.
Pageof 4

Showing results (11-20 of 36) with videos related to

Sort By:
Pageof 4
European Journal of Medical Genetics|August 2, 2005
CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter)E Schollen, S Grünewald, L Keldermans, et al.
American Journal of Medical Genetics. Part A|July 21, 2004
A novel MSX1 mutation in hypodontiaS De Muynck, E Schollen, G Matthijs, et al.
The Biochemical Journal|March 23, 1999
Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymesM Pirard, Y Achouri, J F Collet, et al.
FEBS Letters|July 1, 1999
Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2M Pirard, G Matthijs, L Heykants, et al.
Genomics|February 15, 1997
PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13G Matthijs, E Schollen, M Pirard, et al.
European Journal of Human Genetics : EJHG|October 22, 1998
Prenatal diagnosis in CDG1 families: beware of heterogeneityG Matthijs, E Schollen, J J Cassiman, et al.
Journal of Medical Genetics|August 6, 2002
PTPN11 mutations in LEOPARD syndromeE Legius, C Schrander-Stumpel, E Schollen, et al.
DNA and Cell Biology|July 1, 1994
Cloning and characterization of the promoter region of the murine alpha-4 integrin subunitC De Meirsman, E Schollen, M Jaspers, et al.
Nature Genetics|May 1, 1997
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)G Matthijs, E Schollen, E Pardon, et al.
Journal of Medical Genetics|June 1, 1996
Unusual molecular findings in autosomal recessive spinal muscular atrophyG Matthijs, E Schollen, E Legius, et al.
Pageof 4