Found: 24
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CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
- Published in:
- 2009
- By:
- Publication type:
- Correction Notice
Reply to B Malyarchuk and M Derenko: a need for further investigation of Uralic and Siberian populations in the search for haplogroup N1b's origins.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Cell proliferation-related genetic polymorphisms and gastric cancer risk: systematic review and meta-analysis.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1658, doi. 10.1038/ejhg.2009.102
- By:
- Publication type:
- Article
HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1570, doi. 10.1038/ejhg.2009.104
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- Publication type:
- Article
On the origin of Y-chromosome haplogroup N1b.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1615, doi. 10.1038/ejhg.2009.62
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- Publication type:
- Article
Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1550, doi. 10.1038/ejhg.2009.88
- By:
- Publication type:
- Article
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1560, doi. 10.1038/ejhg.2009.75
- By:
- Publication type:
- Article
A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1683, doi. 10.1038/ejhg.2009.73
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- Publication type:
- Article
Caveolinopathies: from the biology of caveolin-3 to human diseases.
- Published in:
- 2009
- By:
- Publication type:
- Correction Notice
DNA methylation errors at imprinted loci after assisted conception originate in the parental sperm.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1582, doi. 10.1038/ejhg.2009.68
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- Publication type:
- Article
A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR).
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1606, doi. 10.1038/ejhg.2009.99
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- Publication type:
- Article
Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1625, doi. 10.1038/ejhg.2009.77
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- Publication type:
- Article
WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1600, doi. 10.1038/ejhg.2009.81
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- Publication type:
- Article
Recovering unused information in genome-wide association studies: the benefit of analyzing SNPs out of Hardy–Weinberg equilibrium.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1676, doi. 10.1038/ejhg.2009.85
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- Publication type:
- Article
Phenotypes and genotypes of insulin-like growth factor 1, IGF-binding protein-3 and cancer risk: evidence from 96 studies.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1668, doi. 10.1038/ejhg.2009.86
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- Publication type:
- Article
Changing perspectives in biobank research: from individual rights to concerns about public health regarding the return of results.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1544, doi. 10.1038/ejhg.2009.87
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- Publication type:
- Article
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1592, doi. 10.1038/ejhg.2009.90
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- Publication type:
- Article
Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1527, doi. 10.1038/ejhg.2009.93
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- Publication type:
- Article
Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1650, doi. 10.1038/ejhg.2009.94
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- Publication type:
- Article
Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1577, doi. 10.1038/ejhg.2009.95
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- Publication type:
- Article
A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1642, doi. 10.1038/ejhg.2009.96
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- Publication type:
- Article
Comparing population structure as inferred from genealogical versus genetic information.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1635, doi. 10.1038/ejhg.2009.97
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- Publication type:
- Article
Association of FGFR2 gene polymorphisms with the risk of breast cancer in population of West Siberia.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1688, doi. 10.1038/ejhg.2009.98
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- Publication type:
- Article