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A DE Paepe

Showing results (81-90 of 173) with videos related to

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Cytogenetics and Cell Genetics|March 11, 1999
Assignment of the cellular retinol-binding protein 2 gene (RBP2) to human chromosome band 3q23 by in situ hybridizationE De Baere, F Speleman, N Van Roy, et al.
The Journal of Investigative Dermatology|May 1, 1995
Genetic linkage between the collagen type VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid featuresJ M Naeyaert, L Nuytinck, S De Bie, et al.
The International Journal of Behavioral Nutrition and Physical Activity|May 5, 2025
Development and evaluation of the COntextualised and Personalised Physical activity and Exercise Recommendations (COPPER) OntologyM Braun, S Carlier, A De Paepe, et al.
American Journal of Medical Genetics|April 24, 1996
Revised diagnostic criteria for the Marfan syndromeA De Paepe, R B Devereux, H C Dietz, et al.
Human Genetics|March 1, 1996
Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypesL Nuytinck, R Dalgleish, L Spotila, et al.
Journal of Medical Genetics|June 1, 1992
Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IVL Nuytinck, P Narcisi, A Nicholls, et al.
American Journal of Human Genetics|March 7, 1998
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutationsJ Körkkö, L Ala-Kokko, A De Paepe, et al.
Clinical and Experimental Dermatology|November 28, 2001
Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patientR Gardella, L Nuytinck, S Barlati, et al.
Clinical Genetics|December 1, 1994
Clinical, ultrastructural and biochemical studies in two sibs with Ehlers-Danlos syndrome type VI-B-like featuresG Oğur, N Baykan, A De Paepe, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 1, 1997
Alport syndrome and diffuse leiomyomatosis with major morbid events presenting at adult ageA Van Loo, R Vanholder, I Buytaert, et al.
Pageof 18

Showing results (81-90 of 173) with videos related to

Sort By:
Pageof 18
Cytogenetics and Cell Genetics|March 11, 1999
Assignment of the cellular retinol-binding protein 2 gene (RBP2) to human chromosome band 3q23 by in situ hybridizationE De Baere, F Speleman, N Van Roy, et al.
The Journal of Investigative Dermatology|May 1, 1995
Genetic linkage between the collagen type VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid featuresJ M Naeyaert, L Nuytinck, S De Bie, et al.
The International Journal of Behavioral Nutrition and Physical Activity|May 5, 2025
Development and evaluation of the COntextualised and Personalised Physical activity and Exercise Recommendations (COPPER) OntologyM Braun, S Carlier, A De Paepe, et al.
American Journal of Medical Genetics|April 24, 1996
Revised diagnostic criteria for the Marfan syndromeA De Paepe, R B Devereux, H C Dietz, et al.
Human Genetics|March 1, 1996
Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypesL Nuytinck, R Dalgleish, L Spotila, et al.
Journal of Medical Genetics|June 1, 1992
Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IVL Nuytinck, P Narcisi, A Nicholls, et al.
American Journal of Human Genetics|March 7, 1998
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutationsJ Körkkö, L Ala-Kokko, A De Paepe, et al.
Clinical and Experimental Dermatology|November 28, 2001
Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patientR Gardella, L Nuytinck, S Barlati, et al.
Clinical Genetics|December 1, 1994
Clinical, ultrastructural and biochemical studies in two sibs with Ehlers-Danlos syndrome type VI-B-like featuresG Oğur, N Baykan, A De Paepe, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 1, 1997
Alport syndrome and diffuse leiomyomatosis with major morbid events presenting at adult ageA Van Loo, R Vanholder, I Buytaert, et al.
Pageof 18