Ghent University Academic Bibliography

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Your filters: cql: author="VAN MALDERGEM, L" or (type any "bookEditor issueEditor" and editor="VAN MALDERGEM, L")

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- Conference Paper
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Implementation of an in-house designed skeletal dysplasia gene panel as a first screening step to diagnose unsolved osteogenesis imperfecta(-like) patients

Brecht Guillemyn (UGent) , Delfien Syx (UGent) , Toon Rosseel (UGent) , H Kayserlili, AM Cueto-González, L Van Maldergem, Björn Menten (UGent) , Anne De Paepe (UGent) , Paul Coucke (UGent) , Fransiska Malfait (UGent) , et al.

(2018) CALCIFIED TISSUE INTERNATIONAL. 102(1, suppl.).
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Whole-exome sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta

Brecht Guillemyn (UGent) , Tim Van Damme (UGent) , Delfien Syx (UGent) , S Nampoothiri, H Kayserili, AM Cueto-González, L Van Maldergem, Anne De Paepe (UGent) , Fransiska Malfait (UGent) , Paul Coucke (UGent) , et al.

(2017) Osteogenesis Imperfecta, 13th International conference, Abstracts.
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Arterial tortuosity syndrome : case report

C Karakurt, G Koçak, Ö Elkiran, Paul Coucke (UGent) and L Van Maldergem

(2012) GENETIC COUNSELING. 23(4). p.477-482
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Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I

S Saal, L Faivre, B Aral, N Gigot, A Toutain, L Van Maldergem, A Destree, I Maystadt, JP Cosyns, PS Jouk, et al.

(2010) CLINICAL GENETICS. 77(3). p.258-265
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IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients : identification of a new type of minor VWS sign

L Desmyter, M Ghassibe, N Revencu, O Boute, M Lees, G François, C Verellen-Dumoulin, Y Sznajer, A Moncla, H Benateau, et al.

(2010) MOLECULAR SYNDROMOLOGY. 1(2). p.67-74
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- Journal Article
- A1
Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects

Boel De Paepe (UGent) , Joél Smet (UGent) , Juliaan Leroy (UGent) , S Seneca, EDITH GEORGE (UGent) , Dirk Matthys, L Van Maldergem, E Scalais, W Lissens, L De Meirleir, et al.

(2006) PEDIATRIC RESEARCH. 59(1). p.2-6
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- Journal Article
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Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

C THAUVIN-ROBINET, M COSSEE, V CORMIER-DAIRE, L VAN MALDERGEM, A TOUTAIN, Y ALEMBIK, E BIETH, V LAYET, P PARENT, A DAVID, et al.

(2006) JOURNAL OF MEDICAL GENETICS. 43(1). p.54-61
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- Conference Paper
- C3
Immunocytochemical staining of cultured fibroblasts is a valuable first line screening test for oxidative phosphorylation defects.

Boel De Paepe (UGent) , Joél Smet (UGent) , Juliaan Leroy (UGent) , S SENECA, EDITH GEORGE (UGent) , Dirk Matthys, L VAN MALDERGEM, E SCALAIS, W LISSENS, L DE MEIRLEIR, et al.

(2005) European journal of paediatric neurology. 9. p.206-206
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- Conference Paper
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Immunocytochemiscal staining of cultured fibroblasts is available first line screening test for oxidative phosphorylation.

Boel De Paepe (UGent) , Joél Smet (UGent) , Juliaan Leroy (UGent) , S SENECA, EDITH GEORGE (UGent) , Dirk Matthys, L VAN MALDERGEM, E SCALAIS, W LISSENS, L DE MEIRLEIR, et al.

(2005) Journal of inherited metabolic disease. 28 supp 1. p.131-131
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- Journal Article
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Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.

Bart Loeys (UGent) , L VAN MALDERGEM, Geert Mortier (UGent) , Paul Coucke (UGent) , S GERNIERS, Jean Naeyaert and Anne De Paepe (UGent)

(2002) HUMAN MOLECULAR GENETICS. 11(18). p.2113-2118

Academic Bibliography

Implementation of an in-house designed skeletal dysplasia gene panel as a first screening step to diagnose unsolved osteogenesis imperfecta(-like) patients

Whole-exome sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta

Arterial tortuosity syndrome : case report

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I

IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients : identification of a new type of minor VWS sign

Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

Immunocytochemical staining of cultured fibroblasts is a valuable first line screening test for oxidative phosphorylation defects.

Immunocytochemiscal staining of cultured fibroblasts is available first line screening test for oxidative phosphorylation.

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.

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