A Depaepe

Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome

Mei Wang, C E Price, Jenny Han et al. · Human Molecular Genetics · 1995 · 53 citations

Medicine, Genetics, Molecular Genetics +10

Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome.

Maurice Godfrey, Michael Raghunath, Jason Cisler et al. · PubMed · 1995 · 38 citations

Medicine, Molecular Medicine, Pediatric Pathology +5

Two new recurrent nucleotide mutations in theCOL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent

Jarmo Körkkö, Helena Kuivaniemi, Petteri Paassilta et al. · Human Mutation · 1997 · 23 citations

Medicine, Genetics, Molecular Genetics +15

Acrogeria of the Gottron type in a mother and son.

M Błaszczyk, A Depaepe, Lieve Nuytinck et al. · PubMed · 2000 · 13 citations

Medicine, Dermatology, Pathology +9