Results: 16
Characterization of interactions between naturally mutated forms of the TIN2 protein and its known protein partners of the shelterin complex.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 3, p. 301, doi. 10.1111/j.1399-0004.2011.01784.x
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- Publication type:
- Article
Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects.
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- Clinical Genetics, 2012, v. 81, n. 3, p. 272, doi. 10.1111/j.1399-0004.2011.01834.x
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- Article
Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 3, p. 265, doi. 10.1111/j.1399-0004.2010.01621.x
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- Publication type:
- Article
Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 3, p. 298, doi. 10.1111/j.1399-0004.2011.01719.x
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- Article
Parent of origin effects.
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- Clinical Genetics, 2012, v. 81, n. 3, p. 201, doi. 10.1111/j.1399-0004.2011.01790.x
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- Publication type:
- Article
Isolated and syndromic forms of congenital anosmia.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 3, p. 210, doi. 10.1111/j.1399-0004.2011.01776.x
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- Article
A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism.
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- Clinical Genetics, 2012, v. 81, n. 3, p. 257, doi. 10.1111/j.1399-0004.2011.01637.x
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- Publication type:
- Article
Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 3, p. 278, doi. 10.1111/j.1399-0004.2011.01656.x
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- Article
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 3, p. 224, doi. 10.1111/j.1399-0004.2011.01689.x
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- Article
A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.
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- Clinical Genetics, 2012, v. 81, n. 3, p. 289, doi. 10.1111/j.1399-0004.2011.01654.x
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- Publication type:
- Article
X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 3, p. 240, doi. 10.1111/j.1399-0004.2011.01647.x
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- Article
PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 3, p. 294, doi. 10.1111/j.1399-0004.2011.01730.x
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- Publication type:
- Article
CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 3, p. 234, doi. 10.1111/j.1399-0004.2011.01701.x
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- Publication type:
- Article
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.
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- Clinical Genetics, 2012, v. 81, n. 3, p. 284, doi. 10.1111/j.1399-0004.2011.01653.x
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- Publication type:
- Article
Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 3, p. 249, doi. 10.1111/j.1399-0004.2011.01628.x
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- Publication type:
- Article
Reproductive behavior of individuals with increased risk of having a child with retinoblastoma.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 3, p. 216, doi. 10.1111/j.1399-0004.2011.01791.x
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- Publication type:
- Article