Works matching IS 03406717 AND DT 2002 AND VI 111 AND IP 2
Results: 14
Functional characterization of the new human GABA<sub>A</sub> receptor mutation β3(R192H).
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- Human Genetics, 2002, v. 111, n. 2, p. 154, doi. 10.1007/s00439-002-0766-7
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Evidence for a gene influencing heart rate on chromosome 4 among hypertensives.
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- Human Genetics, 2002, v. 111, n. 2, p. 207, doi. 10.1007/s00439-002-0780-9
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Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations – phenotypic spectrum and frequencies of GJB2 mutations in Austria.
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- Human Genetics, 2002, v. 111, n. 2, p. 145, doi. 10.1007/s00439-002-0762-y
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DNA hypermethylation: when tumour suppressor genes go silent.
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- Human Genetics, 2002, v. 111, n. 2, p. 115, doi. 10.1007/s00439-002-0783-6
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Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
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- Human Genetics, 2002, v. 111, n. 2, p. 161, doi. 10.1007/s00439-002-0761-z
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FOXP2: novel exons, splice variants, and CAG repeat length stability.
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- Human Genetics, 2002, v. 111, n. 2, p. 136, doi. 10.1007/s00439-002-0768-5
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Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.
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- Human Genetics, 2002, v. 111, n. 2, p. 214, doi. 10.1007/s00439-002-0770-y
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Androgen receptor CAG polymorphism and prostate cancer risk.
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- Human Genetics, 2002, v. 111, n. 2, p. 166, doi. 10.1007/s00439-002-0776-5
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Functional characterization of a natural variant of luteinizing hormone.
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- Human Genetics, 2002, v. 111, n. 2, p. 219, doi. 10.1007/s00439-002-0781-8
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SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.
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- Human Genetics, 2002, v. 111, n. 2, p. 198, doi. 10.1007/s00439-002-0765-8
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Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
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- Human Genetics, 2002, v. 111, n. 2, p. 190, doi. 10.1007/s00439-002-0750-2
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Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
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- Human Genetics, 2002, v. 111, n. 2, p. 179, doi. 10.1007/s00439-002-0752-0
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Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: inferences from population and sequence data.
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- Human Genetics, 2002, v. 111, n. 2, p. 172, doi. 10.1007/s00439-002-0784-5
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Major gene evidence after MTHFR-segregation analysis of serum homocysteine in families of patients undergoing coronary arteriography.
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- Human Genetics, 2002, v. 111, n. 2, p. 128, doi. 10.1007/s00439-002-0757-8
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- Article