Works matching IS 00099163 AND DT 2013 AND VI 84 AND IP 3
Results: 21
Bernarda Strauss, MD, 1964-2013: a remembrance.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 201, doi. 10.1111/cge.12214
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Mutation identification of Fabry disease in families with other lysosomal storage disorders.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 281, doi. 10.1111/cge.12071
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Incomplete nonsense-mediated decay facilitates detection of a multi-exonic deletion mutation in SGCE.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 276, doi. 10.1111/cge.12059
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To tell or not to tell - what to do about p. C282Y heterozygotes identified by HFE screening.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 286, doi. 10.1111/cge.12053
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Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 213, doi. 10.1111/cge.12064
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Aging in Rett syndrome: a longitudinal study.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 223, doi. 10.1111/cge.12063
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Comparison of X-chromosome inactivation in Duchenne muscle/myocardium-manifesting carriers, non-manifesting carriers and related daughters.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 265, doi. 10.1111/cge.12048
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Cross-sectional assessment of pain and physical function in skeletal dysplasia patients.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 237, doi. 10.1111/cge.12045
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WDR45 mutations define a novel disease entity-Static Encephalopathy of Childhood with Neurodegeneration in Adulthood.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 209, doi. 10.1111/cge.12183
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The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 244, doi. 10.1111/cge.12062
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A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 258, doi. 10.1111/cge.12066
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Rare autosomal dominant mutations in GNAL are associated with primary torsion dystonia.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 211, doi. 10.1111/cge.12178
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Telomere shortening by mutations in the RTEL1 helicase cause severe form of dyskeratosis congenita, Hoyerall-Hreidarsson syndrome.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 210, doi. 10.1111/cge.12175
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Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 203, doi. 10.1111/cge.12131
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FANCA and FANCG are the major Fanconi anemia genes in the Korean population.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 271, doi. 10.1111/cge.12042
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Knowledge of the Genetic Information Nondiscrimination act among individuals affected by Huntington disease.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 251, doi. 10.1111/cge.12065
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Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 294, doi. 10.1111/cge.12047
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Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 230, doi. 10.1111/cge.12060
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A germline mosaic BRCA1 exon deletion in a woman with bilateral basal-like breast cancer.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 297, doi. 10.1111/cge.12057
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Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 300, doi. 10.1111/cge.12068
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Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 290, doi. 10.1111/cge.12039
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