Published in Hum Genet on January 01, 1984
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Localization of a human heat-shock HSP 70 gene sequence to chromosome 6 and detection of two other loci by somatic-cell hybrid and restriction fragment length polymorphism analysis. Hum Genet (1987) 1.28
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Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. J Med Genet (2005) 1.26
Assignment of the human parathyroid hormone gene to chromosome 11. Hum Genet (1983) 1.23
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. J Med Genet (2010) 1.23
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Human type I hair keratin pseudogene phihHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence. Hum Genet (2001) 1.15
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A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease. Mol Psychiatry (2012) 1.09
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Expression of the 67-kD laminin receptor, galectin-1, and galectin-3 in advanced human uterine adenocarcinoma. Hum Pathol (1996) 1.08
Revealing the human mutome. Clin Genet (2010) 1.08
Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene. Hum Genet (2001) 1.07
Increased reproductive success of MHC class II heterozygous males among free-ranging rhesus macaques. Hum Genet (2001) 1.06
Application of the polymerase chain reaction to the diagnosis of human genetic disease. Hum Genet (1990) 1.06
Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families. Hum Genet (1988) 1.05
Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA. Hum Genet (1990) 1.04
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Discoidin I and discoidin II are localized differently in developing Dictyostelium discoideum. J Cell Biol (1983) 1.00
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Structure and function of TSPY, the Y-chromosome gene coding for the "testis-specific protein". Cytogenet Cell Genet (1998) 0.99
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