Works matching IS 10184813 AND DT 2010 AND VI 18
Results: 263
NordicDB: a Nordic pool and portal for genome-wide control data.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1322, doi. 10.1038/ejhg.2010.112
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Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1302, doi. 10.1038/ejhg.2010.115
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Genetic variability at the PARK16 locus.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1356, doi. 10.1038/ejhg.2010.125
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Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1310, doi. 10.1038/ejhg.2010.116
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Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1360, doi. 10.1038/ejhg.2010.126
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Comparing family members' motivations and attitudes towards genetic testing for hereditary breast and ovarian cancer: a qualitative analysis.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1289, doi. 10.1038/ejhg.2010.114
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Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1271, doi. 10.1038/ejhg.2010.129
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X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1353, doi. 10.1038/ejhg.2010.118
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Confirmation of association between multiple sclerosis and CYP27B1.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1349, doi. 10.1038/ejhg.2010.113
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FTO genotype and adiposity in children: physical activity levels influence the effect of the risk genotype in adolescent males.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1339, doi. 10.1038/ejhg.2010.131
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Reply to Dlouha et al.
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- 2010
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- Publication type:
- Letter
FGF21 signalling pathway and metabolic traits - genetic association analysis.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1344, doi. 10.1038/ejhg.2010.130
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A standardized framework for the validation and verification of clinical molecular genetic tests.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1276, doi. 10.1038/ejhg.2010.101
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Gene expression associated with the onset of hearing detected by differential display in rat organ of Corti.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1327, doi. 10.1038/ejhg.2010.111
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The role of disease perceptions and results sharing in psychological adaptation after genetic susceptibility testing: the REVEAL Study.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1296, doi. 10.1038/ejhg.2010.119
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- Article
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1315, doi. 10.1038/ejhg.2010.105
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Lack of association between a new tag SNP in the FTO gene and BMI in Czech-Slavonic population.
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- 2010
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- Publication type:
- Letter
Potential role of TCF7L2 gene variants on cardiac sympathetic/parasympathetic activity.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1333, doi. 10.1038/ejhg.2010.117
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The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1202, doi. 10.1038/ejhg.2010.107
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Population structure and genome-wide patterns of variation in Ireland and Britain.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1248, doi. 10.1038/ejhg.2010.87
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Genetic male infertility and mutation of CATSPER ion channels.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1178, doi. 10.1038/ejhg.2010.108
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Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1196, doi. 10.1038/ejhg.2010.102
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5q11.2 deletion in a patient with tracheal agenesis.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1265, doi. 10.1038/ejhg.2010.84
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Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1216, doi. 10.1038/ejhg.2010.96
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Corrigendum to: EMQN Best Practice Guidelines for molecular genetic testing of SCAs.
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- 2010
- Publication type:
- Correction Notice
Chadic languages and Y haplogroups.
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- 2010
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- Publication type:
- Letter
A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1236, doi. 10.1038/ejhg.2010.94
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Genes predict village of origin in rural Europe.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1269, doi. 10.1038/ejhg.2010.92
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Genome-wide scan identifies a quantitative trait locus at 4p15.3 for serum urate.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1243, doi. 10.1038/ejhg.2010.97
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- Article
EMQN Best Practice Guidelines for molecular genetic testing of SCAs.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1173, doi. 10.1038/ejhg.2010.8
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- Article
Hypothetical and factual willingness to participate in biobank research.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1261, doi. 10.1038/ejhg.2010.106
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Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1209, doi. 10.1038/ejhg.2010.91
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Dengue hemorrhagic fever is associated with polymorphisms in JAK1.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1221, doi. 10.1038/ejhg.2010.98
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Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1228, doi. 10.1038/ejhg.2010.95
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Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1188, doi. 10.1038/ejhg.2010.10
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Reply to Lancaster.
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- 2010
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- Publication type:
- Letter
A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1255, doi. 10.1038/ejhg.2010.93
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A qualitative study exploring genetic counsellors' experiences of counselling children.
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- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1090, doi. 10.1038/ejhg.2010.86
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New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
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- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1100, doi. 10.1038/ejhg.2010.79
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Genome-wide linkage analyses of hereditary prostate cancer families with colon cancer provide further evidence for a susceptibility locus on 15q11-q14.
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- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1141, doi. 10.1038/ejhg.2010.49
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A powerful score test to detect positive selection in genome-wide scans.
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- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1148, doi. 10.1038/ejhg.2010.60
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Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies.
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- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1166, doi. 10.1038/ejhg.2010.80
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The medical geneticist as expert in the transgenerational and developmental aspects of diseases.
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- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1075, doi. 10.1038/ejhg.2010.100
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The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
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- 2010
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- Correction Notice
Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.
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- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1095, doi. 10.1038/ejhg.2010.41
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Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening.
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- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1084, doi. 10.1038/ejhg.2010.78
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CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.
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- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1107, doi. 10.1038/ejhg.2010.82
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A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.
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- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1121, doi. 10.1038/ejhg.2010.81
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A screening methodology based on Random Forests to improve the detection of gene-gene interactions.
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- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1127, doi. 10.1038/ejhg.2010.48
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Approaches to quality management and accreditation in a genetic testing laboratory.
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- European Journal of Human Genetics, 2010, v. 18, p. S1, doi. 10.1038/ejhg.2010.104
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- Article