Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 11
Results: 30
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1473, doi. 10.1038/ejhg.2015.71
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Genome-wide genetic investigation of serological measures of common infections.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1544, doi. 10.1038/ejhg.2015.24
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CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1505, doi. 10.1038/ejhg.2015.21
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Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1531, doi. 10.1038/ejhg.2015.20
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Microsatellite data show recent demographic expansions in sedentary but not in nomadic human populations in Africa and Eurasia.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1592, doi. 10.1038/ejhg.2014.276
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CHARGE syndrome: a review of the immunological aspects.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1451, doi. 10.1038/ejhg.2015.7
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Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1, doi. 10.1038/ejhg.2015.90
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Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1523, doi. 10.1038/ejhg.2015.6
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Genetic Counseling Research-A Practical Guide.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1591, doi. 10.1038/ejhg.2015.62
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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1482, doi. 10.1038/ejhg.2015.29
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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1438, doi. 10.1038/ejhg.2015.57
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It is time to take timing seriously in clinical genetics.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1435, doi. 10.1038/ejhg.2014.271
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Neurogenetics 'What do I do now?' series.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1590, doi. 10.1038/ejhg.2015.137
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A gene-based information gain method for detecting gene-gene interactions in case-control studies.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1566, doi. 10.1038/ejhg.2015.16
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Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome).
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1488, doi. 10.1038/ejhg.2015.13
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KLLN epigenotype-phenotype associations in Cowden syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1538, doi. 10.1038/ejhg.2015.8
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Kullback-Leibler divergence for detection of rare haplotype common disease association.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1558, doi. 10.1038/ejhg.2015.25
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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1592, doi. 10.1038/ejhg.2015.109
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Clinical utility gene card for: Nemaline myopathy - update 2015.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1, doi. 10.1038/ejhg.2015.12
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Y-chromosome diversity in Catalan surname samples: insights into surname origin and frequency.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1549, doi. 10.1038/ejhg.2015.14
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Next-generation sequencing in X-linked intellectual disability.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1513, doi. 10.1038/ejhg.2015.5
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Clinical utility gene card for: CHARGE syndrome - update 2015.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1, doi. 10.1038/ejhg.2015.15
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Arg<sup>1809</sup> substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1460, doi. 10.1038/ejhg.2015.93
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EIF3G is associated with narcolepsy across ethnicities.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1573, doi. 10.1038/ejhg.2015.4
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Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1581, doi. 10.1038/ejhg.2015.28
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A group approach to genetic counselling of cardiomyopathy patients: satisfaction and psychological outcomes sufficient for further implementation.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1462, doi. 10.1038/ejhg.2015.10
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Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1499, doi. 10.1038/ejhg.2015.19
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Performance of the 12-item WHODAS 2.0 in prodromal Huntington disease.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1584, doi. 10.1038/ejhg.2015.11
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Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1468, doi. 10.1038/ejhg.2015.23
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Involvement of astrocyte metabolic coupling in Tourette syndrome pathogenesis.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1519, doi. 10.1038/ejhg.2015.22
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