Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 11
Results: 20
Genetic determination of human facial morphology: links between cleft-lips and normal variation.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1192, doi. 10.1038/ejhg.2011.110
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- Article
Analysis of H19 methylation in control and abnormal human embryos, sperm and oocytes.
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- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1138, doi. 10.1038/ejhg.2011.99
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- Publication type:
- Article
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1144, doi. 10.1038/ejhg.2011.97
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- Article
Fabry or not Fabry - a question of ascertainment.
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- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1111, doi. 10.1038/ejhg.2011.87
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- Article
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.
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- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1133, doi. 10.1038/ejhg.2011.101
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- Article
Fatty acid desaturase 2 promoter mutation is not responsible for Δ6-desaturase deficiency.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1202, doi. 10.1038/ejhg.2011.104
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- Publication type:
- Article
Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.
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- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1198, doi. 10.1038/ejhg.2011.95
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- Publication type:
- Article
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1161, doi. 10.1038/ejhg.2011.98
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- Publication type:
- Article
Impact of gene patents on diagnostic testing: a new patent landscaping method applied to spinocerebellar ataxia.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1114, doi. 10.1038/ejhg.2011.109
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- Publication type:
- Article
Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989.
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- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1187, doi. 10.1038/ejhg.2011.113
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- Publication type:
- Article
Clinical utility gene card for: Dyskeratosis congenita.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1, doi. 10.1038/ejhg.2011.90
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- Publication type:
- Article
Are the kids really all right? Direct-to-consumer genetic testing in children: are company policies clashing with professional norms?
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1122, doi. 10.1038/ejhg.2011.94
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- Publication type:
- Article
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1, doi. 10.1038/ejhg.2011.108
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- Publication type:
- Article
The causality of de novo copy number variants is overestimated.
- Published in:
- 2011
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- Publication type:
- Letter
An atlas of tissue-specific conserved coexpression for functional annotation and disease gene prediction.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1173, doi. 10.1038/ejhg.2011.96
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- Publication type:
- Article
Data-driven approach to detect common copy-number variations and frequency profiles in a population-based Korean cohort.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1167, doi. 10.1038/ejhg.2011.103
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- Publication type:
- Article
The tRNA<sup>Met</sup> 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1181, doi. 10.1038/ejhg.2011.111
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- Publication type:
- Article
Clinical utility gene card for: Haemophilia A.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1, doi. 10.1038/ejhg.2011.107
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- Publication type:
- Article
Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.
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- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1152, doi. 10.1038/ejhg.2011.120
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- Publication type:
- Article
Opinions and intentions of parents of an autistic child toward genetic research results: two typical profiles.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1127, doi. 10.1038/ejhg.2011.106
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- Article