Works matching IS 10184813 AND DT 2013 AND VI 21 AND IP 1
Results: 25
Hierarchical clustering analysis of blood plasma lipidomics profiles from mono- and dizygotic twin families.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 95, doi. 10.1038/ejhg.2012.110
- By:
- Publication type:
- Article
Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 27, doi. 10.1038/ejhg.2012.94
- By:
- Publication type:
- Article
Publics and biobanks: Pan-European diversity and the challenge of responsible innovation.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 121, doi. 10.1038/ejhg.2012.236
- By:
- Publication type:
- Article
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 82, doi. 10.1038/ejhg.2012.116
- By:
- Publication type:
- Article
Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 00, doi. 10.1038/ejhg.2012.164
- By:
- Publication type:
- Article
A guide to cancer genetics in clinical practice.
- Published in:
- 2013
- By:
- Publication type:
- Book Review
Variable imprinting of the MEST gene in human preimplantation embryos.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 40, doi. 10.1038/ejhg.2012.102
- By:
- Publication type:
- Article
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 21, doi. 10.1038/ejhg.2012.101
- By:
- Publication type:
- Article
Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 0, doi. 10.1038/ejhg.2012.163
- By:
- Publication type:
- Article
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 69, doi. 10.1038/ejhg.2012.109
- By:
- Publication type:
- Article
The EuroGentest Clinical Utility Gene Cards continued.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 1, doi. 10.1038/ejhg.2012.161
- By:
- Publication type:
- Article
Partial deletion of GLRB and GRIA2 in a patient with intellectual disability.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 112, doi. 10.1038/ejhg.2012.97
- By:
- Publication type:
- Article
Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 76, doi. 10.1038/ejhg.2012.81
- By:
- Publication type:
- Article
Publics and biobanks: Pan-European diversity and the challenge of responsible innovation.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 14, doi. 10.1038/ejhg.2012.104
- By:
- Publication type:
- Article
Small effective population size and genetic homogeneity in the Val Borbera isolate.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 89, doi. 10.1038/ejhg.2012.113
- By:
- Publication type:
- Article
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 115, doi. 10.1038/ejhg.2012.105
- By:
- Publication type:
- Article
Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 00, doi. 10.1038/ejhg.2012.162
- By:
- Publication type:
- Article
The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 102, doi. 10.1038/ejhg.2012.98
- By:
- Publication type:
- Article
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 55, doi. 10.1038/ejhg.2012.117
- By:
- Publication type:
- Article
Impact of common regulatory single-nucleotide variants on gene expression profiles in whole blood.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 48, doi. 10.1038/ejhg.2012.106
- By:
- Publication type:
- Article
Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 34, doi. 10.1038/ejhg.2012.93
- By:
- Publication type:
- Article
REGENT: a risk assessment and classification algorithm for genetic and environmental factors.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 109, doi. 10.1038/ejhg.2012.107
- By:
- Publication type:
- Article
Bardet-Biedl syndrome.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 8, doi. 10.1038/ejhg.2012.115
- By:
- Publication type:
- Article
Developing a policy for paediatric biobanks: principles for good practice.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 2, doi. 10.1038/ejhg.2012.99
- By:
- Publication type:
- Article
Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 62, doi. 10.1038/ejhg.2012.112
- By:
- Publication type:
- Article