S. De Bie

Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

A. Taillandier, E. Cozien, Françoise Müller et al. · Human Mutation · 2000 · 45 citations

Genetics, Pathology, Osteogenesis +19

Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO)

Françoise Meire, J. J. De Laey, S. De Bie et al. · Ophthalmic Paediatrics and Genetics · 1985 · 40 citations

Progressive Sensorineural Deafness, Ocular Disease, Ophthalmology +13

Familial congenital esophageal atresia

M. Van Staey, S. De Bie, M. Th. Matton et al. · Human Genetics · 1984 · 40 citations

Developmental Anomaly, Esophagus, Pediatrics +2

Late Extraocular Tumours in Retinoblastoma Survivors

J François, E. De Sutter, R. Coppieters et al. · Ophthalmologica · 1980 · 23 citations

Carrier Screening for Cystic Fibrosis in a Prenatal Setting

Immle Delvaux, A. Van Tongerloo, Ludwine M. Messiaen et al. · Genetic Testing · 2001 · 14 citations

Genetic Epidemiology, Diagnosis, Reproductive Health +16