Works matching IS 03406717 AND DT 2015 AND VI 134 AND IP 6
Results: 15
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
- Published in:
- Human Genetics, 2015, v. 134, n. 6, p. 553, doi. 10.1007/s00439-015-1535-8
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- Article
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.
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- Human Genetics, 2015, v. 134, n. 6, p. 511, doi. 10.1007/s00439-015-1536-7
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- Article
Replicated linear association between DUF1220 copy number and severity of social impairment in autism.
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- Human Genetics, 2015, v. 134, n. 6, p. 569, doi. 10.1007/s00439-015-1537-6
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- Article
Ian MacFarlane, Patricia McCarthy Veach, Bonnie S. LeRoy: Genetic counseling research: a practical guide.
- Published in:
- 2015
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- Publication type:
- Book Review
Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions.
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- Human Genetics, 2015, v. 134, n. 6, p. 589, doi. 10.1007/s00439-015-1539-4
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- Article
Erratum to: Differential positive selection of malaria resistance genes in three indigenous populations of Peninsular Malaysia.
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- 2015
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- Publication type:
- Erratum
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
- Published in:
- Human Genetics, 2015, v. 134, n. 6, p. 577, doi. 10.1007/s00439-015-1541-x
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- Article
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
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- Human Genetics, 2015, v. 134, n. 6, p. 613, doi. 10.1007/s00439-015-1542-9
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- Article
Analysis of human upstream open reading frames and impact on gene expression.
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- Human Genetics, 2015, v. 134, n. 6, p. 605, doi. 10.1007/s00439-015-1544-7
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- Publication type:
- Article
Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence.
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- Human Genetics, 2015, v. 134, n. 6, p. 539, doi. 10.1007/s00439-014-1514-5
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- Publication type:
- Article
West Eurasian mtDNA lineages in India: an insight into the spread of the Dravidian language and the origins of the caste system.
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- Human Genetics, 2015, v. 134, n. 6, p. 637, doi. 10.1007/s00439-015-1547-4
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- Publication type:
- Article
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
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- Human Genetics, 2015, v. 134, n. 6, p. 671, doi. 10.1007/s00439-015-1548-3
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- Publication type:
- Article
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.
- Published in:
- Human Genetics, 2015, v. 134, n. 6, p. 659, doi. 10.1007/s00439-015-1551-8
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- Publication type:
- Article
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
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- Human Genetics, 2015, v. 134, n. 6, p. 649, doi. 10.1007/s00439-015-1553-6
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- Publication type:
- Article
A genome-wide expression quantitative trait loci analysis of proprotein convertase subtilisin/kexin enzymes identifies a novel regulatory gene variant for FURIN expression and blood pressure.
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- Human Genetics, 2015, v. 134, n. 6, p. 627, doi. 10.1007/s00439-015-1546-5
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- Publication type:
- Article