Showing results (21-30 of 142) with videos related to
Sort By:
Pageof 15
Human Genetics|January 7, 1998
Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 geneL Messiaen, T Callens, A De Paepe, et al.Genetic Counseling (Geneva, Switzerland)|August 5, 2010
A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutationE Tug, B Loeys, A De Paepe, et al.Journal De Genetique Humaine|June 1, 1988
[The Ehlers-Danlos and Marfan syndromes in young children]A De Paepe, H Van den Bossche, G Mortier, et al.Human Mutation|January 1, 1994
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IVL Nuytinck, A De Paepe, J P Renard, et al.Clinical Neurology and Neurosurgery|January 1, 1988
Association of multiple intracranial aneurysms and collagen type III deficiencyA de Paepe, W van Landegem, F de Keyser, et al.Acta Gastro-Enterologica Belgica|February 24, 2001
Prevalence of the Cys282Tyr and His63Asp mutation in Flemish patients with hereditary hemochromatosisH Van Vlierberghe, L Messiaen, M Hautekeete, et al.American Journal of Medical Genetics|January 1, 1993
Osteoporosis-pseudoglioma syndromeA De Paepe, J G Leroy, L Nuytinck, et al.American Journal of Medical Genetics|April 29, 1998
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK)P Beighton, A De Paepe, B Steinmann, et al.Clinical Neurology and Neurosurgery|January 1, 1988
Familial meningioma. Case report with cytogenetic studyW Van Landegem, A Vakaet, A De Paepe, et al.Biochemical and Biophysical Research Communications|November 25, 1998
Human myosin V gene produces different transcripts in a cell type-specific mannerJ Lambert, J M Naeyaert, T Callens, et al.Pageof 15