Works matching IS 00099163 AND DT 2011 AND VI 79 AND IP 2
Results: 15
A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).
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- Clinical Genetics, 2011, v. 79, n. 2, p. 183, doi. 10.1111/j.1399-0004.2010.01449.x
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- Article
Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.
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- Clinical Genetics, 2011, v. 79, n. 2, p. 176, doi. 10.1111/j.1399-0004.2010.01451.x
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CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy.
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- Clinical Genetics, 2011, v. 79, n. 2, p. 118, doi. 10.1111/j.1399-0004.2010.01547.x
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Large structural polymorphisms predispose genomic sequences to disease-causing rearrangements.
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- Clinical Genetics, 2011, v. 79, n. 2, p. 134, doi. 10.1111/j.1399-0004.2010.01587.x
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- Article
Understanding the population structure of North American patients with cystic fibrosis.
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- Clinical Genetics, 2011, v. 79, n. 2, p. 136, doi. 10.1111/j.1399-0004.2010.01502.x
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- Article
A novel syndromic form of sensory-motor polyneuropathy is linked to chromosome 22q13.31-q13.33.
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- Clinical Genetics, 2011, v. 79, n. 2, p. 193, doi. 10.1111/j.1399-0004.2010.01524.x
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OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.
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- Clinical Genetics, 2011, v. 79, n. 2, p. 158, doi. 10.1111/j.1399-0004.2010.01450.x
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Insight into the genetic cause underlying Kabuki syndrome.
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- Clinical Genetics, 2011, v. 79, n. 2, p. 133, doi. 10.1111/j.1399-0004.2010.01586.x
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Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family.
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- Clinical Genetics, 2011, v. 79, n. 2, p. 189, doi. 10.1111/j.1399-0004.2010.01517.x
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The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders.
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- Clinical Genetics, 2011, v. 79, n. 2, p. 169, doi. 10.1111/j.1399-0004.2010.01443.x
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Whole-exome sequencing: a powerful technique for identifying novel genes of complex disorders.
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- Clinical Genetics, 2011, v. 79, n. 2, p. 132, doi. 10.1111/j.1399-0004.2010.01585.x
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High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting.
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- Clinical Genetics, 2011, v. 79, n. 2, p. 147, doi. 10.1111/j.1399-0004.2010.01442.x
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- Article
Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan.
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- Clinical Genetics, 2011, v. 79, n. 2, p. 196, doi. 10.1111/j.1399-0004.2010.01527.x
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Genetic counselor opinions of, and experiences with telephone communication of BRCA1/2 test results.
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- Clinical Genetics, 2011, v. 79, n. 2, p. 125, doi. 10.1111/j.1399-0004.2010.01540.x
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- Article
Wolfram syndrome and WFS1 gene.
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- Clinical Genetics, 2011, v. 79, n. 2, p. 103, doi. 10.1111/j.1399-0004.2010.01522.x
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- Article