Works matching IS 00099163 AND DT 2013 AND VI 83 AND IP 1
Results: 18
Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?
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- Clinical Genetics, 2013, v. 83, n. 1, p. 53, doi. 10.1111/j.1399-0004.2012.01850.x
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Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome.
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- Clinical Genetics, 2013, v. 83, n. 1, p. 96, doi. 10.1111/j.1399-0004.2012.01883.x
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Mutations in ATP1A3 cause alternating hemiplegia of childhood.
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- Clinical Genetics, 2013, v. 83, n. 1, p. 32, doi. 10.1111/cge.12031
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Integrating next-generation sequencing into the diagnostic testing of inherited cancer predisposition.
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- Clinical Genetics, 2013, v. 83, n. 1, p. 2, doi. 10.1111/cge.12028
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Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.
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- Clinical Genetics, 2013, v. 83, n. 1, p. 78, doi. 10.1111/j.1399-0004.2012.01853.x
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High frequency of GJA12/ GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
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- Clinical Genetics, 2013, v. 83, n. 1, p. 66, doi. 10.1111/j.1399-0004.2012.01846.x
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Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.
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- Clinical Genetics, 2013, v. 83, n. 1, p. 73, doi. 10.1111/j.1399-0004.2012.01857.x
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Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development.
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- Clinical Genetics, 2013, v. 83, n. 1, p. 35, doi. 10.1111/j.1399-0004.2012.01879.x
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HINT1 mutations define a novel disease entity - autosomal recessive axonal neuropathy with neuromyotonia.
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- Clinical Genetics, 2013, v. 83, n. 1, p. 31, doi. 10.1111/cge.12030
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Special new feature in Clinical Genetics.
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- Clinical Genetics, 2013, v. 83, n. 1, p. 1, doi. 10.1111/cge.12067
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Age-specific incidence rates for breast cancer in carriers of BRCA1 mutations from Norway.
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- Clinical Genetics, 2013, v. 83, n. 1, p. 88, doi. 10.1111/j.1399-0004.2012.01855.x
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MODY type 2 P59S GCK mutant: founder effect in South of Italy.
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- Clinical Genetics, 2013, v. 83, n. 1, p. 83, doi. 10.1111/j.1399-0004.2012.01856.x
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Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families.
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- Clinical Genetics, 2013, v. 83, n. 1, p. 23, doi. 10.1111/cge.12004
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Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).
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- Clinical Genetics, 2013, v. 83, n. 1, p. 92, doi. 10.1111/j.1399-0004.2012.01880.x
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A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus.
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- Clinical Genetics, 2013, v. 83, n. 1, p. 44, doi. 10.1111/j.1399-0004.2011.01833.x
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Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management.
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- Clinical Genetics, 2013, v. 83, n. 1, p. 7, doi. 10.1111/j.1399-0004.2012.01892.x
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The developmental genetics of Hirschsprung's disease The developmental genetics of Hirschsprung's disease.
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- Clinical Genetics, 2013, v. 83, n. 1, p. 15, doi. 10.1111/cge.12032
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Novel NMNAT1 mutations causing Leber congenital amaurosis identified.
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- Clinical Genetics, 2013, v. 83, n. 1, p. 33, doi. 10.1111/cge.12043
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