Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 7
Results: 15
Expanding the mutational spectrum of LZTR1 in schwannomatosis.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 963, doi. 10.1038/ejhg.2014.220
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- Article
C6ORF97-ESR1 breast cancer susceptibility locus: influence on progression and survival in breast cancer patients.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 949, doi. 10.1038/ejhg.2014.219
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- Article
Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 990, doi. 10.1038/ejhg.2014.236
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- Article
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 935, doi. 10.1038/ejhg.2014.214
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- Article
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 957, doi. 10.1038/ejhg.2014.213
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- Article
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 922, doi. 10.1038/ejhg.2014.211
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- Article
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 907, doi. 10.1038/ejhg.2014.205
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- Article
Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsies.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 901, doi. 10.1038/ejhg.2014.222
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- Article
Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 975, doi. 10.1038/ejhg.2014.216
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- Article
BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert Centres.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 893, doi. 10.1038/ejhg.2014.235
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- Article
A genetic risk score for hypertension associates with the risk of ischemic stroke in a Swedish case-control study.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 969, doi. 10.1038/ejhg.2014.212
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- Article
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 915, doi. 10.1038/ejhg.2014.217
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- Article
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 929, doi. 10.1038/ejhg.2014.223
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- Article
Genome-wide scan identifies a copy number variable region at 3p21.1 that influences the TLR9 expression levels in IgA nephropathy patients.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 940, doi. 10.1038/ejhg.2014.208
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- Article
The correlation between ancestry and color in two cities of Northeast Brazil with contrasting ethnic compositions.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 984, doi. 10.1038/ejhg.2014.215
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- Article