Published in Eur J Hum Genet on November 01, 2001
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A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene. Hum Genet (1993) 1.21
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. J Med Genet (2005) 1.20
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Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26. Genome Res (2001) 1.17
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Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Hum Mol Genet (2001) 1.13
Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions. Hum Mutat (1999) 1.13
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WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Hum Mol Genet (1995) 1.12
Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia. Mol Psychiatry (2009) 1.11
Haplotype analysis to determine the position of a mutation among closely linked DNA markers. Hum Mol Genet (1993) 1.11
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PTOV1, a novel protein overexpressed in prostate cancer containing a new class of protein homology blocks. Oncogene (2001) 1.11
Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene. Hum Genet (1994) 1.11
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Cloning and characterization of DYRK1B, a novel member of the DYRK family of protein kinases. Biochem Biophys Res Commun (1999) 1.10