Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 7
Results: 20
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 769, doi. 10.1038/ejhg.2011.18
- By:
- Publication type:
- Article
A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 820, doi. 10.1038/ejhg.2011.33
- By:
- Publication type:
- Article
Genomic inflation factors under polygenic inheritance.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 807, doi. 10.1038/ejhg.2011.39
- By:
- Publication type:
- Article
The expanded human disease network combining protein-protein interaction information.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 783, doi. 10.1038/ejhg.2011.30
- By:
- Publication type:
- Article
Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 763, doi. 10.1038/ejhg.2011.20
- By:
- Publication type:
- Article
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 776, doi. 10.1038/ejhg.2011.23
- By:
- Publication type:
- Article
Identification of ACOX2 as a shared genetic risk factor for preeclampsia and cardiovascular disease.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 796, doi. 10.1038/ejhg.2011.19
- By:
- Publication type:
- Article
Children, biobanks and the scope of parental consent.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 735, doi. 10.1038/ejhg.2011.29
- By:
- Publication type:
- Article
Clinical utility gene card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP).
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 1, doi. 10.1038/ejhg.2011.7
- By:
- Publication type:
- Article
Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 789, doi. 10.1038/ejhg.2011.38
- By:
- Publication type:
- Article
Mild CFTR mutations and genetic predisposition to lactase persistence in cystic fibrosis.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 748, doi. 10.1038/ejhg.2011.36
- By:
- Publication type:
- Article
Not so simple: a quasi-experimental study of how researchers adjudicate genetic research results.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 740, doi. 10.1038/ejhg.2011.34
- By:
- Publication type:
- Article
Clinical utility gene card for: Meckel syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 1, doi. 10.1038/ejhg.2010.255
- By:
- Publication type:
- Article
Does the new HapMap throw the baby out with the bath water?
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 733, doi. 10.1038/ejhg.2010.228
- By:
- Publication type:
- Article
The GENCODE exome: sequencing the complete human exome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 827, doi. 10.1038/ejhg.2011.28
- By:
- Publication type:
- Article
Clinical utility gene card for: α-Mannosidosis.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 1, doi. 10.1038/ejhg.2011.5
- By:
- Publication type:
- Article
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 753, doi. 10.1038/ejhg.2011.11
- By:
- Publication type:
- Article
Simple strategies for haplotype analysis of the X chromosome with application to age-related macular degeneration.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 801, doi. 10.1038/ejhg.2011.35
- By:
- Publication type:
- Article
Genetic architecture of circulating lipid levels.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 813, doi. 10.1038/ejhg.2011.21
- By:
- Publication type:
- Article
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
- Published in:
- 2011
- By:
- Publication type:
- Case Study