Showing results (61-70 of 142) with videos related to
Sort By:
Pageof 15
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.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 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.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.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.Disease Markers|December 14, 1999
Genetic counselling and testing for hereditary breast and ovarian cancer: the gent(le) approachM De Vos, B Poppe, I Delvaux, et al.Pageof 15