Works matching IS 10184813 AND DT 2010 AND VI 18 AND IP 10
Results: 17
A qualitative study exploring genetic counsellors' experiences of counselling children.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1090, doi. 10.1038/ejhg.2010.86
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- Publication type:
- Article
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1100, doi. 10.1038/ejhg.2010.79
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- Publication type:
- Article
Genome-wide linkage analyses of hereditary prostate cancer families with colon cancer provide further evidence for a susceptibility locus on 15q11-q14.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1141, doi. 10.1038/ejhg.2010.49
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- Publication type:
- Article
A powerful score test to detect positive selection in genome-wide scans.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1148, doi. 10.1038/ejhg.2010.60
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- Publication type:
- Article
Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1166, doi. 10.1038/ejhg.2010.80
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- Publication type:
- Article
The medical geneticist as expert in the transgenerational and developmental aspects of diseases.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1075, doi. 10.1038/ejhg.2010.100
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- Publication type:
- Article
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
- Published in:
- 2010
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- Publication type:
- Correction Notice
Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1095, doi. 10.1038/ejhg.2010.41
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- Publication type:
- Article
Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1084, doi. 10.1038/ejhg.2010.78
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- Publication type:
- Article
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1107, doi. 10.1038/ejhg.2010.82
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- Publication type:
- Article
A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1121, doi. 10.1038/ejhg.2010.81
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- Publication type:
- Article
A screening methodology based on Random Forests to improve the detection of gene-gene interactions.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1127, doi. 10.1038/ejhg.2010.48
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- Publication type:
- Article
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1160, doi. 10.1038/ejhg.2010.83
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- Publication type:
- Article
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1133, doi. 10.1038/ejhg.2010.59
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- Publication type:
- Article
Carrier screening for Beta-thalassaemia: a review of international practice.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1077, doi. 10.1038/ejhg.2010.90
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- Publication type:
- Article
An account of our past to inform our future.
- Published in:
- 2010
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- Publication type:
- Book Review
Genomic profile of copy number variants on the short arm of human chromosome 8.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1114, doi. 10.1038/ejhg.2010.66
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- Publication type:
- Article