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Researcher
Sylvia De Bie
Profile
Projects
Publications
Activities
12
Results
2014
Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon
Anne De Paepe
Sylvia De Bie
A1
Journal Article
in
EUROPEAN JOURNAL OF HUMAN GENETICS
2014
2005
Unequivocal delineation of clinicogenetic subgroups and development of a new model for improved outcome prediction in neuroblastoma
Jo Vandesompele
Katleen De Preter
Nadine Van Roy
Sylvia De Bie
Anne De Paepe
Genevieve Laureys
Franki Speleman
A1
Journal Article
in
JOURNAL OF CLINICAL ONCOLOGY
2005
2004
DUP25 remains unconfirmed
Stefan Vermeulen
Björn Menten
Sylvia De Bie
Paul Coucke
Fransiska Malfait
Julie De Backer
Franki Speleman
Anne De Paepe
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2004
2002
Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.
Stefan Vermeulen
Ludwine Messiaen
Sylvia De Bie
Franki Speleman
Anne De Paepe
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS
2002
2001
Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis C.
Hans Van Vlierberghe
Sylvia De Bie
Marleen Praet
Anne De Paepe
Ludwine Messiaen
Martine De Vos
Geert Leroux-Roels
A1
Journal Article
in
EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY
2001
Carrier screening for cystic fibrosis in a prenatal setting.
Isabelle Delvaux
Ariane Van Tongerloo
Ludwine Messiaen
Sylvia De Bie
Geert Mortier
Anne De Paepe
A1
Journal Article
in
GENETIC TESTING
2001
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
Bart Loeys
Lieve Nuytinck
Isabelle Delvaux
Sylvia De Bie
Anne De Paepe
A1
Journal Article
in
ARCHIVES OF INTERNAL MEDICINE
2001
1996
Refined genetic and physical mapping of BPES type II
Ludwine Messiaen
Bart Leroy
Sylvia De Bie
Nadine Van Roy
Franki Speleman
Anne De Paepe
A1
Journal Article
in
EUROPEAN JOURNAL OF HUMAN GENETICS
1996
1995
Diagnosis of human peroxisomal disorders. A handbook
Frank Roels
Sylvia De Bie
A2
Journal Article
in
JOURNAL OF INHERITED METABOLIC DISEASE
1995
Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features
Lieve Nuytinck
Sylvia De Bie
Hilde Beele
Anne De Paepe
A1
Journal Article
in
JOURNAL OF INVESTIGATIVE DERMATOLOGY
1995
Linkage: a primer for dermatologists
Sylvia De Bie
Anne De Paepe
A2
Journal Article
in
Eur. J. Dermatol., 5, 653-658
1995
Klinische Genetica. Een medische tak in volle expansie. Hoofdstuk voor het boek 'Het Medisch Jaar' (editie 1998), 1997.
Bart Loeys
Sylvia De Bie
Anne De Paepe
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