Works matching IS 00099163 AND DT 2012 AND VI 82 AND IP 1
Results: 18
Chinese Americans' views of prenatal genetic testing in the genomic era: a qualitative study.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 1, p. 22, doi. 10.1111/j.1399-0004.2012.01871.x
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- Article
Whole genomes in the clinic: uncovering de novo mutations in sporadic infantile epilepsy.
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- Clinical Genetics, 2012, v. 82, n. 1, p. 28, doi. 10.1111/j.1399-0004.2012.01893.x
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- Article
Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region.
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- Clinical Genetics, 2012, v. 82, n. 1, p. 100, doi. 10.1111/j.1399-0004.2011.01824.x
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- Article
Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report.
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- Clinical Genetics, 2012, v. 82, n. 1, p. 71, doi. 10.1111/j.1399-0004.2011.01725.x
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- Article
What can we learn from old microdeletion syndromes using array-CGH screening?
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- Clinical Genetics, 2012, v. 82, n. 1, p. 41, doi. 10.1111/j.1399-0004.2011.01747.x
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- Article
Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
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- Clinical Genetics, 2012, v. 82, n. 1, p. 56, doi. 10.1111/j.1399-0004.2011.01695.x
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- Article
Arterial anomalies in arterial tortuosity syndrome: a sour-sweet pathology?
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- Clinical Genetics, 2012, v. 82, n. 1, p. 30, doi. 10.1111/j.1399-0004.2012.01870.x
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- Article
Stüve-Wiedemann syndrome and related bent bone dysplasias.
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- Clinical Genetics, 2012, v. 82, n. 1, p. 12, doi. 10.1111/j.1399-0004.2012.01852.x
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- Article
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.
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- 2012
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- Publication type:
- Letter to the Editor
Molecular testing in congenital adrenal hyperplasia due to 21 α-hydroxylase deficiency in the era of newborn screening.
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- Clinical Genetics, 2012, v. 82, n. 1, p. 64, doi. 10.1111/j.1399-0004.2011.01694.x
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- Article
A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.
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- Clinical Genetics, 2012, v. 82, n. 1, p. 48, doi. 10.1111/j.1399-0004.2011.01698.x
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- Article
Colon-specific phenotype in Lynch syndrome associated with EPCAM deletion.
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- Clinical Genetics, 2012, v. 82, n. 1, p. 97, doi. 10.1111/j.1399-0004.2011.01826.x
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- Article
Deficiency of the Y14 protein is a critical factor underlying the etiology of thrombocytopenia with absent radii syndrome.
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- Clinical Genetics, 2012, v. 82, n. 1, p. 29, doi. 10.1111/j.1399-0004.2012.01888.x
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- Publication type:
- Article
Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease.
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- Clinical Genetics, 2012, v. 82, n. 1, p. 77, doi. 10.1111/j.1399-0004.2011.01693.x
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- Publication type:
- Article
JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.
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- Clinical Genetics, 2012, v. 82, n. 1, p. 33, doi. 10.1111/j.1399-0004.2011.01749.x
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- Article
Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene.
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- Clinical Genetics, 2012, v. 82, n. 1, p. 88, doi. 10.1111/j.1399-0004.2011.01675.x
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- Article
The Ehlers-Danlos syndrome, a disorder with many faces.
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- Clinical Genetics, 2012, v. 82, n. 1, p. 1, doi. 10.1111/j.1399-0004.2012.01858.x
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- Publication type:
- Article
Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis.
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- Clinical Genetics, 2012, v. 82, n. 1, p. 83, doi. 10.1111/j.1399-0004.2011.01726.x
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- Publication type:
- Article