Works matching IS 10184813 AND DT 2013 AND VI 21 AND IP 4
Results: 24
Genetic perspectives on the origin of clicks in Bantu languages from southwestern Zambia.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 430, doi. 10.1038/ejhg.2012.192
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A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 474, doi. 10.1038/ejhg.2012.171
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Genetic heterogeneity in Finnish hereditary prostate cancer using ordered subset analysis.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 437, doi. 10.1038/ejhg.2012.185
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Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 381, doi. 10.1038/ejhg.2012.195
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Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 478, doi. 10.1038/ejhg.2012.189
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Contemporary paternal genetic landscape of Polish and German populations: from early medieval Slavic expansion to post-World War II resettlements.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 415, doi. 10.1038/ejhg.2012.190
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Utilizing extended pedigree information for discovery and confirmation of copy number variable regions among Mexican Americans.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 404, doi. 10.1038/ejhg.2012.188
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WikiGWA: an open platform for collecting and using genome-wide association results.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 471, doi. 10.1038/ejhg.2012.187
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High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 469, doi. 10.1038/ejhg.2012.203
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Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 460, doi. 10.1038/ejhg.2012.186
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Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 397, doi. 10.1038/ejhg.2012.181
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Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 391, doi. 10.1038/ejhg.2012.180
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Dilution of candidates: the case of iron-related genes in restless legs syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 410, doi. 10.1038/ejhg.2012.193
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- Article
Do regulatory regions matter in FOXG1 duplications?
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 365, doi. 10.1038/ejhg.2012.142
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The frequency of an IL-18-associated haplotype in Africans.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 465, doi. 10.1038/ejhg.2012.184
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Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 367, doi. 10.1038/ejhg.2012.198
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Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 455, doi. 10.1038/ejhg.2012.165
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Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 361, doi. 10.1038/ejhg.2012.166
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Familial cosegregation of rare genetic variants with disease in complex disorders.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 444, doi. 10.1038/ejhg.2012.194
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Analyzing age-specific genetic effects on human extreme age survival in cohort-based longitudinal studies.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 451, doi. 10.1038/ejhg.2012.182
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Detecting genetic variants for extreme aging using multiple data sources.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 359, doi. 10.1038/ejhg.2012.183
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Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 386, doi. 10.1038/ejhg.2012.191
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Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 373, doi. 10.1038/ejhg.2012.177
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Evidence from Y-chromosome analysis for a late exclusively eastern expansion of the Bantu-speaking people.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 423, doi. 10.1038/ejhg.2012.176
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