Works matching IS 10184813 AND DT 2009 AND VI 17 AND IP 11
Results: 26
The difficulty to classify complex dysmorphic syndromes on the ward.
- Published in:
- 2009
- By:
- Publication type:
- Book Review
JEAN B DAUSSET, 19 OCTOBER 1916–6 JUNE 2009.
- Published in:
- 2009
- By:
- Publication type:
- Obituary
Human longevity and 11p15.5: a study in 1321 centenarians.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1515, doi. 10.1038/ejhg.2009.54
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- Publication type:
- Article
Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1403, doi. 10.1038/ejhg.2009.56
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- Publication type:
- Article
A heterozygote–homozygote test of Hardy–Weinberg equilibrium.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1495, doi. 10.1038/ejhg.2009.57
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- Publication type:
- Article
J1-M267 Y lineage marks climate-driven pre-historical human displacements.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1520, doi. 10.1038/ejhg.2009.58
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- Publication type:
- Article
Risk-reducing surgery for ovarian cancer: outcomes in 300 surgeries suggest a low peritoneal primary risk.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1381, doi. 10.1038/ejhg.2009.60
- By:
- Publication type:
- Article
Diagnostic value of post-heparin lipase testing in detecting common genetic variants in the LPL and LIPC genes.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1386, doi. 10.1038/ejhg.2009.61
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- Publication type:
- Article
The role of mitochondrial genome in essential hypertension in a Chinese Han population.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1501, doi. 10.1038/ejhg.2009.63
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- Publication type:
- Article
Functional identification of the promoter of SLC4A5, a gene associated with cardiovascular and metabolic phenotypes in the HERITAGE Family Study.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1481, doi. 10.1038/ejhg.2009.64
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- Publication type:
- Article
Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome.
- Published in:
- 2009
- By:
- Publication type:
- Correction Notice
Angelman syndrome (AS, MIM 105830).
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1367, doi. 10.1038/ejhg.2009.67
- By:
- Publication type:
- Article
Isolated populations as treasure troves in genetic epidemiology: the case of the Basques.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1490, doi. 10.1038/ejhg.2009.69
- By:
- Publication type:
- Article
Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1439, doi. 10.1038/ejhg.2009.70
- By:
- Publication type:
- Article
Phosphodiesterase 4D and 5-lipoxygenase activating protein genes and risk of ischemic stroke in Sardinians.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1448, doi. 10.1038/ejhg.2009.71
- By:
- Publication type:
- Article
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1432, doi. 10.1038/ejhg.2009.72
- By:
- Publication type:
- Article
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1394, doi. 10.1038/ejhg.2009.74
- By:
- Publication type:
- Article
Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1411, doi. 10.1038/ejhg.2009.76
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- Publication type:
- Article
Novel SOX2 partner-factor domain mutation in a four-generation family.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1417, doi. 10.1038/ejhg.2009.79
- By:
- Publication type:
- Article
A critical assessment of the factors affecting reporter gene assays for promoter SNP function: a reassessment of −308 TNF polymorphism function using a novel integrated reporter system.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1454, doi. 10.1038/ejhg.2009.80
- By:
- Publication type:
- Article
Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1378, doi. 10.1038/ejhg.2009.82
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- Publication type:
- Article
Expression of SNURF–SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1463, doi. 10.1038/ejhg.2009.83
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- Publication type:
- Article
Council of Europe adopts protocol on genetic testing for health purposes.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1374, doi. 10.1038/ejhg.2009.84
- By:
- Publication type:
- Article
Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1471, doi. 10.1038/ejhg.2009.89
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- Publication type:
- Article
Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1423, doi. 10.1038/ejhg.2009.91
- By:
- Publication type:
- Article
A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1507, doi. 10.1038/ejhg.2009.92
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- Publication type:
- Article