Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 9
Results: 19
Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1009, doi. 10.1038/ejhg.2011.60
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- Article
Genetic variation in the Sorbs of eastern Germany in the context of broader European genetic diversity.
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- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 995, doi. 10.1038/ejhg.2011.65
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- Article
Clinical utility gene card for: 3M syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1, doi. 10.1038/ejhg.2011.32
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- Article
Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.
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- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1, doi. 10.1038/ejhg.2011.16
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- Article
Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families.
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- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 981, doi. 10.1038/ejhg.2011.61
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- Article
Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.
- Published in:
- 2011
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- Correction Notice
Clinical presentation and mutations in Danish patients with Wilson disease.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 935, doi. 10.1038/ejhg.2011.80
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- Article
Clinical utility gene card for: CHARGE syndrome.
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- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1, doi. 10.1038/ejhg.2011.45
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- Article
Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.
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- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1, doi. 10.1038/ejhg.2011.55
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- Article
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.
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- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 947, doi. 10.1038/ejhg.2011.58
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- Article
The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein.
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- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 965, doi. 10.1038/ejhg.2011.63
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- Article
An updated tree of Y-chromosome Haplogroup O and revised phylogenetic positions of mutations P164 and PK4.
- Published in:
- 2011
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- Correction Notice
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 959, doi. 10.1038/ejhg.2011.71
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- Article
Worldwide spatial genetic structure of angiotensin-converting enzyme gene: a new evolutionary ecological evidence for the thrifty genotype hypothesis.
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- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1002, doi. 10.1038/ejhg.2011.66
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- Publication type:
- Article
High-throughput sequencing of complete human mtDNA genomes from the Caucasus and West Asia: high diversity and demographic inferences.
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- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 988, doi. 10.1038/ejhg.2011.62
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- Article
Clinical utility gene card for: Joubert syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1, doi. 10.1038/ejhg.2011.49
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- Publication type:
- Article
An updated tree of Y-chromosome Haplogroup O and revised phylogenetic positions of mutations P164 and PK4.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1013, doi. 10.1038/ejhg.2011.64
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- Publication type:
- Article
The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.
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- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 942, doi. 10.1038/ejhg.2011.74
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- Article
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
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- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 974, doi. 10.1038/ejhg.2011.70
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- Article