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A DE Paepe

Showing results (71-80 of 173) with videos related to

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Journal of Medical Genetics|July 6, 2004
Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotypeS Symoens, L Nuytinck, E Legius, et al.
BJU International|June 26, 2002
Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinenceB Loeys, P Hoebeke, A Raes, et al.
Archives of Oral Biology|November 23, 2006
Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disordersP J De Coster, M Cornelissen, A De Paepe, et al.
Journal of Medical Genetics|May 1, 1988
Trisomy 3 mosaicism in a patient with Bartter syndromeF De Keyser, E Matthys, A De Paepe, et al.
Prenatal Diagnosis|May 1, 1993
Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosisM R Verschraegen-Spae, N van Roy, A de Perdigo, et al.
Journal of Medical Genetics|April 25, 2000
Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 geneG Mortier, L Nuytinck, M Craen, et al.
Human Genetics|November 1, 1994
Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagenN J Rose, K Mackay, A De Paepe, et al.
Methods in Cell Biology|July 23, 2016
RT-qPCR gene expression analysis in zebrafish: Preanalytical precautions and use of expressed repetitive elements for normalizationS Vanhauwaert, S Lefever, P Coucke, et al.
American Journal of Human Genetics|March 31, 2000
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagenL Nuytinck, M Freund, L Lagae, et al.
Genomics|April 7, 1999
Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpointE De Baere, N Van Roy, F Speleman, et al.
Pageof 18

Showing results (71-80 of 173) with videos related to

Sort By:
Pageof 18
Journal of Medical Genetics|July 6, 2004
Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotypeS Symoens, L Nuytinck, E Legius, et al.
BJU International|June 26, 2002
Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinenceB Loeys, P Hoebeke, A Raes, et al.
Archives of Oral Biology|November 23, 2006
Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disordersP J De Coster, M Cornelissen, A De Paepe, et al.
Journal of Medical Genetics|May 1, 1988
Trisomy 3 mosaicism in a patient with Bartter syndromeF De Keyser, E Matthys, A De Paepe, et al.
Prenatal Diagnosis|May 1, 1993
Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosisM R Verschraegen-Spae, N van Roy, A de Perdigo, et al.
Journal of Medical Genetics|April 25, 2000
Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 geneG Mortier, L Nuytinck, M Craen, et al.
Human Genetics|November 1, 1994
Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagenN J Rose, K Mackay, A De Paepe, et al.
Methods in Cell Biology|July 23, 2016
RT-qPCR gene expression analysis in zebrafish: Preanalytical precautions and use of expressed repetitive elements for normalizationS Vanhauwaert, S Lefever, P Coucke, et al.
American Journal of Human Genetics|March 31, 2000
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagenL Nuytinck, M Freund, L Lagae, et al.
Genomics|April 7, 1999
Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpointE De Baere, N Van Roy, F Speleman, et al.
Pageof 18