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Interstitial telomeric sequences at the junction site of a jumping translocation
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Physical mapping of the HOXA1 gene and the hnRPA2B1 gene in a YAC contig from human chromosome 7p14-p15
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Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.
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Substitution of glycine-661 by serine in the α1(I) and α2(I) chains of type I collagen results in different clinical and biochemical phenotypes
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Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical glycine 502 serine substitutions in the α2 chain of type I collagen
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Molecular cytogenetic analysis of XX males using Y-specific DNA-sequences, including SRY
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Reciprocal translocation between the proximal regions of the long arms of chromosomes 13 and 15 resulting in unbalanced offspring: characterization by fluorescence in situ hybridization and DNA analysis
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A 27-BP DELETION FROM ONE ALLELE OF THE TYPE-III COLLAGEN GENE (COL3A1) IN A LARGE FAMILY WITH EHLERS-DANLOS SYNDROME TYPE-IV.
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POLYMORPHISMS IN THE APOLIPOPROTEIN (APO) AI-CIII-AIV GENE-CLUSTER - DETECTION OF GENETIC-VARIATION DETERMINING PLASMA APO-AI, APO-CIII AND APO-AIV CONCENTRATIONS.
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X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus