Published in Thyroid on February 01, 1997
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FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates. Eur J Hum Genet (2000) 1.00
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WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion. Genomics (1994) 0.91
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Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis. Hum Genet (1997) 0.89
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Short arm deletion of an X chromosome, 46,XXp-. Hum Genet (1976) 0.87
Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation: A case report of a novel COL10A1 mutation. J Orthop Sci (2011) 0.86
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Severe factor V deficiency presenting as subdural haematoma in the newborn. Eur J Pediatr (1998) 0.85
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Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect. Am J Med Genet (1997) 0.84
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RNA polymerase chain reaction detects different levels of four alternatively spliced WT1 transcripts in Wilms' tumors. Oncogene (1992) 0.84
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Variable phenotype associated with Ser505Asn-activating thyrotropin-receptor germline mutation. Thyroid (1999) 0.83
Mutation screening for the prothrombin variant G20210A by melting point analysis with the Light Cycler system: atypical results, detection of the variant C20209T and possible clinical implications. Clin Lab Haematol (2005) 0.83
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Supernumerary small ring chromosome. Humangenetik (1974) 0.83
A girl with partial long-arm deletion of chromosome 11 and familial pericentric inversion of chromosome 9. Hum Genet (1977) 0.82
Developmental expression of human cartilage matrix protein. Dev Dyn (1994) 0.82
Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia. Hum Mol Genet (1994) 0.82
Cloning, characterization, and chromosomal assignment of the human ortholog of murine Zfp-37, a candidate gene for Nager syndrome. Mamm Genome (1998) 0.82
New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormone. Hum Mutat (1996) 0.82
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Human CLAPS2 encoding AP17, a small chain of the clathrin-associated protein complex: cDNA cloning and chromosomal assignment to 19q13.2-->q13.3. Cytogenet Cell Genet (1996) 0.80
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No evidence for sequences structurally related to the RB1 gene in the human genome. Hum Genet (1991) 0.80
4-Epidoxycycline: an alternative to doxycycline to control gene expression in conditional mouse models. Biochem Biophys Res Commun (2004) 0.79
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