Works matching IS 00099163 AND DT 2012 AND VI 82 AND IP 3
Results: 19
Rethinking the genetic basis and inheritance of fascioscapulohumeral muscular dystrophy.
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- Clinical Genetics, 2012, v. 82, n. 3, p. 219, doi. 10.1111/j.1399-0004.2012.01913.x
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- Article
Regulating the communication of genetic risk information: the Italian legal approach to questions of confidentiality and disclosure.
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- Clinical Genetics, 2012, v. 82, n. 3, p. 205, doi. 10.1111/j.1399-0004.2012.01935.x
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- Article
High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy.
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- Clinical Genetics, 2012, v. 82, n. 3, p. 277, doi. 10.1111/j.1399-0004.2011.01751.x
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- Article
Preimplantation and prenatal genetic diagnosis for androgen insensitivity syndrome resulting from a novel deletion/insertion mutation.
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- Clinical Genetics, 2012, v. 82, n. 3, p. 295, doi. 10.1111/j.1399-0004.2012.01847.x
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- Article
De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer.
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- Clinical Genetics, 2012, v. 82, n. 3, p. 283, doi. 10.1111/j.1399-0004.2011.01744.x
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- Article
Direct to consumer genetic testing: a systematic review of position statements, policies and recommendations.
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- Clinical Genetics, 2012, v. 82, n. 3, p. 210, doi. 10.1111/j.1399-0004.2012.01863.x
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- Article
A phase 1 enzyme replacement study offers promise for severe hypophospahatasia.
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- Clinical Genetics, 2012, v. 82, n. 3, p. 220, doi. 10.1111/j.1399-0004.2012.01912.x
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- Article
A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.
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- Clinical Genetics, 2012, v. 82, n. 3, p. 264, doi. 10.1111/j.1399-0004.2011.01743.x
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- Article
Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair.
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- Clinical Genetics, 2012, v. 82, n. 3, p. 292, doi. 10.1111/j.1399-0004.2011.01839.x
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- Article
New insights into familial diarrhea syndrome.
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- Clinical Genetics, 2012, v. 82, n. 3, p. 221, doi. 10.1111/j.1399-0004.2012.01911.x
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- Article
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.
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- Clinical Genetics, 2012, v. 82, n. 3, p. 248, doi. 10.1111/j.1399-0004.2011.01755.x
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- Article
Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.
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- Clinical Genetics, 2012, v. 82, n. 3, p. 240, doi. 10.1111/j.1399-0004.2011.01771.x
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- Article
Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5.
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- Clinical Genetics, 2012, v. 82, n. 3, p. 297, doi. 10.1111/j.1399-0004.2012.01849.x
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- Article
Corrigendum.
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- 2012
- Publication type:
- Erratum
Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.
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- Clinical Genetics, 2012, v. 82, n. 3, p. 223, doi. 10.1111/j.1399-0004.2011.01781.x
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- Article
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).
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- Clinical Genetics, 2012, v. 82, n. 3, p. 256, doi. 10.1111/j.1399-0004.2011.01745.x
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- Article
'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient.
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- Clinical Genetics, 2012, v. 82, n. 3, p. 288, doi. 10.1111/j.1399-0004.2011.01785.x
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- Article
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.
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- Clinical Genetics, 2012, v. 82, n. 3, p. 232, doi. 10.1111/j.1399-0004.2011.01786.x
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- Article
High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.
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- Clinical Genetics, 2012, v. 82, n. 3, p. 271, doi. 10.1111/j.1399-0004.2011.01741.x
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- Article