Works matching IS 10184813 AND DT 2008 AND VI 16 AND IP 3
Results: 19
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Y-chromosome diversity characterizes the Gulf of Oman.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 374, doi. 10.1038/sj.ejhg.5201934
- By:
- Publication type:
- Article
Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 279, doi. 10.1038/sj.ejhg.5201937
- By:
- Publication type:
- Article
The I105V polymorphism in glutathione S-transferase P1, parental smoking and the risk for nonsyndromic cleft lip with or without cleft palate.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 358, doi. 10.1038/sj.ejhg.5201973
- By:
- Publication type:
- Article
Polymorphisms in the cardiac sodium channel promoter displaying variant in vitro expression activity.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 350, doi. 10.1038/sj.ejhg.5201952
- By:
- Publication type:
- Article
The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 391, doi. 10.1038/sj.ejhg.5201964
- By:
- Publication type:
- Article
It's in a chart! Handbook of Physical Measurements – Second Edition.
- Published in:
- 2008
- By:
- Publication type:
- Book Review
Process and outcome in communication of genetic information within families: a systematic review.
- Published in:
- 2008
- By:
- Publication type:
- Correction Notice
A genome-wide scan suggests a susceptibility locus on 5p13 for nasopharyngeal carcinoma.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 343, doi. 10.1038/sj.ejhg.5201951
- By:
- Publication type:
- Article
IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 328, doi. 10.1038/sj.ejhg.5201974
- By:
- Publication type:
- Article
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 395, doi. 10.1038/sj.ejhg.5201975
- By:
- Publication type:
- Article
Provision and quality assurance of preimplantation genetic diagnosis in Europe.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 290, doi. 10.1038/sj.ejhg.5201976
- By:
- Publication type:
- Article
NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 305, doi. 10.1038/sj.ejhg.5201978
- By:
- Publication type:
- Article
Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projects.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 335, doi. 10.1038/sj.ejhg.5201979
- By:
- Publication type:
- Article
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 367, doi. 10.1038/sj.ejhg.5201980
- By:
- Publication type:
- Article
Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 300, doi. 10.1038/sj.ejhg.5201982
- By:
- Publication type:
- Article
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 312, doi. 10.1038/sj.ejhg.5201985
- By:
- Publication type:
- Article
Genome-wide association studies of quantitative traits with related individuals: little (power) lost but much to be gained.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 387, doi. 10.1038/sj.ejhg.5201990
- By:
- Publication type:
- Article
Deletion of 5′ sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 320, doi. 10.1038/sj.ejhg.5201991
- By:
- Publication type:
- Article