Works matching IS 00099163 AND DT 2014 AND VI 86 AND IP 4
Results: 18
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.
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- Clinical Genetics, 2014, v. 86, n. 4, p. 318, doi. 10.1111/cge.12352
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Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.
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- Clinical Genetics, 2014, v. 86, n. 4, p. 361, doi. 10.1111/cge.12288
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PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes.
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- Clinical Genetics, 2014, v. 86, n. 4, p. 349, doi. 10.1111/cge.12282
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Genetics of hypertrophic cardiomyopathy in Norway.
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- Clinical Genetics, 2014, v. 86, n. 4, p. 355, doi. 10.1111/cge.12286
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Aminoacylase I deficiency due to ACY1 mRNA exon skipping.
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- Clinical Genetics, 2014, v. 86, n. 4, p. 367, doi. 10.1111/cge.12297
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Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.
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- Clinical Genetics, 2014, v. 86, n. 4, p. 335, doi. 10.1111/cge.12279
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Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS.
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- Clinical Genetics, 2014, v. 86, n. 4, p. 396, doi. 10.1111/cge.12295
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Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
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- Clinical Genetics, 2014, v. 86, n. 4, p. 326, doi. 10.1111/cge.12275
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Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.
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- Clinical Genetics, 2014, v. 86, n. 4, p. 342, doi. 10.1111/cge.12292
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A novel mutation of the leptin gene in an Indian patient.
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- Clinical Genetics, 2014, v. 86, n. 4, p. 391, doi. 10.1111/cge.12289
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Frequency of DMPK mutation carriers in Korean women of childbearing age.
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- Clinical Genetics, 2014, v. 86, n. 4, p. 398, doi. 10.1111/cge.12310
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FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile.
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- Clinical Genetics, 2014, v. 86, n. 4, p. 378, doi. 10.1111/cge.12278
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Familial intellectual disability in an Iranian family with a novel truncating mutation in CEP290.
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- Clinical Genetics, 2014, v. 86, n. 4, p. 387, doi. 10.1111/cge.12296
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A 'cure' for Down syndrome: what do parents want?
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- Clinical Genetics, 2014, v. 86, n. 4, p. 310, doi. 10.1111/cge.12364
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Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p. Arg569His.
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- Clinical Genetics, 2014, v. 86, n. 4, p. 394, doi. 10.1111/cge.12290
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The kidney in Fabry's disease.
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- Clinical Genetics, 2014, v. 86, n. 4, p. 301, doi. 10.1111/cge.12386
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Huntington disease and Huntington disease-like in a case series from Brazil.
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- Clinical Genetics, 2014, v. 86, n. 4, p. 373, doi. 10.1111/cge.12283
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Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease.
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- Clinical Genetics, 2014, v. 86, n. 4, p. 383, doi. 10.1111/cge.12294
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