Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 1
Results: 25
Experiences with array-based sequence capture; toward clinical applications.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 50, doi. 10.1038/ejhg.2010.145
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- Publication type:
- Article
Genetic diversity on the Comoros Islands shows early seafaring as major determinant of human biocultural evolution in the Western Indian Ocean.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 89, doi. 10.1038/ejhg.2010.128
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- Publication type:
- Article
Visual arts and genetics: lessons from the past.
- Published in:
- 2011
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- Publication type:
- Book Review
p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 36, doi. 10.1038/ejhg.2010.137
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- Publication type:
- Article
Clinical utility gene card for: Holoprosencephaly.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 1, doi. 10.1038/ejhg.2010.110
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- Publication type:
- Article
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 102, doi. 10.1038/ejhg.2010.142
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- Publication type:
- Article
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 115, doi. 10.1038/ejhg.2010.132
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- Publication type:
- Article
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 56, doi. 10.1038/ejhg.2010.134
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- Publication type:
- Article
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 18, doi. 10.1038/ejhg.2010.136
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- Publication type:
- Article
Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 64, doi. 10.1038/ejhg.2010.143
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- Publication type:
- Article
Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 10, doi. 10.1038/ejhg.2010.135
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- Publication type:
- Article
Cervix smear abnormalities: linking pathology data in female twins, their mothers and sisters.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 108, doi. 10.1038/ejhg.2010.139
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- Publication type:
- Article
Rubinstein-Taybi syndrome (CREBBP, EP300).
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 1, doi. 10.1038/ejhg.2010.124
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- Publication type:
- Article
Mutation rate estimates for 110 Y-chromosome STRs combining population and father-son pair data.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 70, doi. 10.1038/ejhg.2010.154
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- Publication type:
- Article
A genomic analysis identifies a novel component in the genetic structure of sub-Saharan African populations.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 84, doi. 10.1038/ejhg.2010.141
- By:
- Publication type:
- Article
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 95, doi. 10.1038/ejhg.2010.146
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- Publication type:
- Article
Nicotinic α5 receptor subunit mRNA expression is associated with distant 5′ upstream polymorphisms.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 76, doi. 10.1038/ejhg.2010.120
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- Publication type:
- Article
Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 3, doi. 10.1038/ejhg.2010.138
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- Publication type:
- Article
Clinical utility gene card for: Lesch-Nyhan syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 1, doi. 10.1038/ejhg.2010.109
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- Publication type:
- Article
Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 23, doi. 10.1038/ejhg.2010.151
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- Publication type:
- Article
Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 1, doi. 10.1038/ejhg.2010.149
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- Publication type:
- Article
Genetic marker polymorphisms on chromosome 8q24 and prostate cancer in the Dutch population: DG8S737 may not be the causative variant.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 118, doi. 10.1038/ejhg.2010.133
- By:
- Publication type:
- Article
Alternative splice variants of the USH3A gene Clarin 1 (CLRN1).
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 30, doi. 10.1038/ejhg.2010.140
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- Publication type:
- Article
Type II familial synpolydactyly: report on two families with an emphasis on variations of expression.
- Published in:
- 2011
- By:
- Publication type:
- Case Study