Works matching IS 10184813 AND DT 2008 AND VI 16 AND IP 8
Results: 25
Genomic Medicine: ‘Grand challenges’ in the translation of genomics to human health.
- Published in:
- 2008
- By:
- Publication type:
- Editorial
Testing replication of a 5-SNP set for general cognitive ability in six population samples.
- Published in:
- 2008
- By:
- Publication type:
- Correction Notice
Marco Fraccaro.
- Published in:
- 2008
- By:
- Publication type:
- Obituary
Uptake of testing for BRCA1/2 mutations in South East Scotland.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 906, doi. 10.1038/ejhg.2008.17
- By:
- Publication type:
- Article
How much is too much? Phenotypic consequences of Rai1 overexpression in mice.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 941, doi. 10.1038/ejhg.2008.21
- By:
- Publication type:
- Article
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 961, doi. 10.1038/ejhg.2008.22
- By:
- Publication type:
- Article
Associations of apolipoprotein E gene with ischemic stroke and intracranial atherosclerosis.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 955, doi. 10.1038/ejhg.2008.27
- By:
- Publication type:
- Article
Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1).
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 897, doi. 10.1038/ejhg.2008.28
- By:
- Publication type:
- Article
Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 913, doi. 10.1038/ejhg.2008.29
- By:
- Publication type:
- Article
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 888, doi. 10.1038/ejhg.2008.30
- By:
- Publication type:
- Article
A genome-wide linkage scan for low spinal bone mineral density in a single extended family confirms linkage to 1p36.3.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 970, doi. 10.1038/ejhg.2008.31
- By:
- Publication type:
- Article
Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 977, doi. 10.1038/ejhg.2008.33
- By:
- Publication type:
- Article
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 875, doi. 10.1038/ejhg.2008.34
- By:
- Publication type:
- Article
Testing informative missingness in genetic studies using case–parent triads.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 992, doi. 10.1038/ejhg.2008.38
- By:
- Publication type:
- Article
In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 921, doi. 10.1038/ejhg.2008.39
- By:
- Publication type:
- Article
Association analysis of the skin barrier gene cystatin A at the PSORS5 locus in psoriatic patients: evidence for interaction between PSORS1 and PSORS5.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 1002, doi. 10.1038/ejhg.2008.40
- By:
- Publication type:
- Article
Unaffected patients with a homozygous absence of the SMN1 gene.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 930, doi. 10.1038/ejhg.2008.41
- By:
- Publication type:
- Article
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 880, doi. 10.1038/ejhg.2008.42
- By:
- Publication type:
- Article
ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 983, doi. 10.1038/ejhg.2008.43
- By:
- Publication type:
- Article
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 935, doi. 10.1038/ejhg.2008.47
- By:
- Publication type:
- Article
Influence of the cystathionine β-synthase 844ins68 and methylenetetrahydrofolate reductase 677C>T polymorphisms on folate and homocysteine concentrations.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 1010, doi. 10.1038/ejhg.2008.69
- By:
- Publication type:
- Article
Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations.
- Published in:
- 2008
- By:
- Publication type:
- Correction Notice
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 1014, doi. 10.1038/ejhg.2008.89
- By:
- Publication type:
- Article
Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 1019, doi. 10.1038/ejhg.2008.90
- By:
- Publication type:
- Article
Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families.
- Published in:
- 2008
- By:
- Publication type:
- Correction Notice