Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 2
Results: 33
BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 277, doi. 10.1038/ejhg.2013.281
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Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 273, doi. 10.1038/ejhg.2013.114
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The policies of ethics committees in the management of biobanks used for research: an Italian survey.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 260, doi. 10.1038/ejhg.2013.107
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A panel of ancestry informative markers to estimate and correct potential effects of population stratification in Han Chinese.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 248, doi. 10.1038/ejhg.2013.111
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The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 295, doi. 10.1038/ejhg.2013.261
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Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 286, doi. 10.1038/ejhg.2013.150
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Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 184, doi. 10.1038/ejhg.2013.112
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Comment on Gialluisi et al.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 157, doi. 10.1038/ejhg.2013.152
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Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 179, doi. 10.1038/ejhg.2013.130
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The Genome of the Netherlands: design, and project goals.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 221, doi. 10.1038/ejhg.2013.118
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Complete mtDNA genomes of Filipino ethnolinguistic groups: a melting pot of recent and ancient lineages in the Asia-Pacific region.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 228, doi. 10.1038/ejhg.2013.122
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Non-meiotic chromosome instability in human immature oocytes.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 202, doi. 10.1038/ejhg.2013.106
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A MEN1 syndrome with a paraganglioma.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 283, doi. 10.1038/ejhg.2013.128
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CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 197, doi. 10.1038/ejhg.2013.123
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Experiences, considerations and emotions relating to cardiogenetic evaluation in relatives of young sudden cardiac death victims.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 192, doi. 10.1038/ejhg.2013.126
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Random forest fishing: a novel approach to identifying organic group of risk factors in genome-wide association studies.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 254, doi. 10.1038/ejhg.2013.109
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Reconciling clinical importance and statistical significance.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 158, doi. 10.1038/ejhg.2013.110
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- Article
Clinical utility gene card for: Hereditary thrombocythemia.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 1, doi. 10.1038/ejhg.2013.117
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Accurate prediction of a minimal region around a genetic association signal that contains the causal variant.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 238, doi. 10.1038/ejhg.2013.115
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Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 160, doi. 10.1038/ejhg.2013.125
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A novel method, the Variant Impact On Linkage Effect Test (VIOLET), leads to improved identification of causal variants in linkage regions.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 243, doi. 10.1038/ejhg.2013.120
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Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC).
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 1, doi. 10.1038/ejhg.2013.124
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Shining a light on CNTNAP2: complex functions to complex disorders.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 171, doi. 10.1038/ejhg.2013.100
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Clarifying assent in pediatric research.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 266, doi. 10.1038/ejhg.2013.119
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The sex-specific associations of the aromatase gene with Alzheimer's disease and its interaction with IL10 in the Epistasis Project.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 216, doi. 10.1038/ejhg.2013.116
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Reply to ten Kate et al.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 157, doi. 10.1038/ejhg.2013.153
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Clinical utility gene card for: Tuberous sclerosis complex (TSC1, TSC2).
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 1, doi. 10.1038/ejhg.2013.129
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- Article
Do BRCA1/2 mutations and low FMR1 alleles interact or not?
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 155, doi. 10.1038/ejhg.2013.213
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Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 208, doi. 10.1038/ejhg.2013.108
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Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 289, doi. 10.1038/ejhg.2013.113
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BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 295, doi. 10.1038/ejhg.2013.294
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- Publication type:
- Article
Mutations in the C-terminus of CDKL5: proceed with caution.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 270, doi. 10.1038/ejhg.2013.133
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The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 280, doi. 10.1038/ejhg.2013.193
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