Works matching IS 10184813 AND DT 2013 AND VI 21 AND IP 7
Results: 20
Clinical Utility Gene Card for: incontinentia pigmenti.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 1, doi. 10.1038/ejhg.2012.227
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- Article
Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.
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- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 762, doi. 10.1038/ejhg.2012.254
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- Article
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.
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- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 784, doi. 10.1038/ejhg.2012.252
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- Article
Spanish regulatory approach for Biobanking.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 708, doi. 10.1038/ejhg.2012.249
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- Publication type:
- Article
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 736, doi. 10.1038/ejhg.2012.251
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- Article
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 774, doi. 10.1038/ejhg.2012.266
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- Publication type:
- Article
Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 725, doi. 10.1038/ejhg.2012.253
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- Article
The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 703, doi. 10.1038/ejhg.2012.238
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- Publication type:
- Article
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 743, doi. 10.1038/ejhg.2012.240
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- Publication type:
- Article
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.
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- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 788, doi. 10.1038/ejhg.2012.259
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- Publication type:
- Article
Non-invasive prenatal testing for single gene disorders: exploring the ethics.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 713, doi. 10.1038/ejhg.2012.250
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- Publication type:
- Article
Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 757, doi. 10.1038/ejhg.2012.235
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- Article
A focus group study on breast cancer risk presentation: one format does not fit all.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 719, doi. 10.1038/ejhg.2012.248
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- Publication type:
- Article
A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 779, doi. 10.1038/ejhg.2012.242
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- Publication type:
- Article
Clinical Utility Gene Card for: campomelic dysplasia.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 1, doi. 10.1038/ejhg.2012.228
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- Publication type:
- Article
Analysis of the effects of rare variants on splicing identifies alterations in GABA<sub>A</sub> receptor genes in autism spectrum disorder individuals.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 749, doi. 10.1038/ejhg.2012.243
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- Publication type:
- Article
Can manipulation of splicing offer gene therapy possibilities to those with tumour-prone disorders?
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 701, doi. 10.1038/ejhg.2012.264
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- Publication type:
- Article
In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 769, doi. 10.1038/ejhg.2012.261
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- Publication type:
- Article
Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 731, doi. 10.1038/ejhg.2012.239
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- Publication type:
- Article
Clinical utility gene card for: Rothmund-Thomson syndrome.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 1, doi. 10.1038/ejhg.2012.260
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- Article