Works matching IS 00099163 AND DT 2010 AND VI 78 AND IP 4
Results: 17
Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population.
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- Clinical Genetics, 2010, v. 78, n. 4, p. 381, doi. 10.1111/j.1399-0004.2010.01388.x
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Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.
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- Clinical Genetics, 2010, v. 78, n. 4, p. 388, doi. 10.1111/j.1399-0004.2010.01393.x
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Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V.
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- Clinical Genetics, 2010, v. 78, n. 4, p. 398, doi. 10.1111/j.1399-0004.2010.01403.x
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The contribution of founder mutations in BRCA1 to breast and ovarian cancer in Lithuania.
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- Clinical Genetics, 2010, v. 78, n. 4, p. 373, doi. 10.1111/j.1399-0004.2010.01404.x
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Submicroscopic familial chromosomal translocation between 7q and 12p mimicking an autosomal dominant holoprosencephaly syndrome.
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- Clinical Genetics, 2010, v. 78, n. 4, p. 402, doi. 10.1111/j.1399-0004.2010.01437.x
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The contribution of founder mutations in BRCA1 to breast cancer in Belarus.
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- Clinical Genetics, 2010, v. 78, n. 4, p. 377, doi. 10.1111/j.1399-0004.2010.01439.x
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The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements.
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- Clinical Genetics, 2010, v. 78, n. 4, p. 299, doi. 10.1111/j.1399-0004.2010.01445.x
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Large genomic rearrangements in mutation-negative BRCA families: a population-based study.
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- Clinical Genetics, 2010, v. 78, n. 4, p. 405, doi. 10.1111/j.1399-0004.2010.01463.x
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High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus.
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- Clinical Genetics, 2010, v. 78, n. 4, p. 364, doi. 10.1111/j.1399-0004.2010.01473.x
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Revealing the human mutome.
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- Clinical Genetics, 2010, v. 78, n. 4, p. 310, doi. 10.1111/j.1399-0004.2010.01474.x
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MUTYH-associated polyposis – variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations.
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- Clinical Genetics, 2010, v. 78, n. 4, p. 353, doi. 10.1111/j.1399-0004.2010.01478.x
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Hermann Friedberg's case report: an early description of CLOVES syndrome.
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- Clinical Genetics, 2010, v. 78, n. 4, p. 342, doi. 10.1111/j.1399-0004.2010.01479.x
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Reproductive decision-making: a qualitative study among couples at increased risk of having a child with retinoblastoma.
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- Clinical Genetics, 2010, v. 78, n. 4, p. 334, doi. 10.1111/j.1399-0004.2010.01484.x
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Hippocampus development and function: role of epigenetic factors and implications for cognitive disease.
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- Clinical Genetics, 2010, v. 78, n. 4, p. 321, doi. 10.1111/j.1399-0004.2010.01503.x
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SET(BP1)-ing the stage for a better understanding of Schinzel—Giedion syndrome.
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- Clinical Genetics, 2010, v. 78, n. 4, p. 348, doi. 10.1111/j.1399-0004.2010.01505.x
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A novel link between Tourette's syndrome and histaminergic signalling.
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- Clinical Genetics, 2010, v. 78, n. 4, p. 349, doi. 10.1111/j.1399-0004.2010.01506.x
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SLITRK5, a protein that links striatal deficits to OCD-like behaviours in mice.
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- Clinical Genetics, 2010, v. 78, n. 4, p. 350, doi. 10.1111/j.1399-0004.2010.01507.x
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- Article