Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 4
Results: 26
An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 466, doi. 10.1038/ejhg.2014.122
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Copy number variations and genetic admixtures in three Xinjiang ethnic minority groups.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 536, doi. 10.1038/ejhg.2014.134
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Evaluation of European coeliac disease risk variants in a north Indian population.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 530, doi. 10.1038/ejhg.2014.137
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Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 486, doi. 10.1038/ejhg.2014.130
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Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 473, doi. 10.1038/ejhg.2014.136
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Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 481, doi. 10.1038/ejhg.2014.132
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The role of the genetic counsellor: a systematic review of research evidence.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 452, doi. 10.1038/ejhg.2014.116
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Clinical utility gene card for: Dyskeratosis congenita - update 2015.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. -1, doi. 10.1038/ejhg.2014.170
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Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 516, doi. 10.1038/ejhg.2014.129
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Parents' responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screening.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 459, doi. 10.1038/ejhg.2014.126
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Genetic Heterogeneity and Human Disease.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 559, doi. 10.1038/ejhg.2015.2
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Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 551, doi. 10.1038/ejhg.2014.135
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Functional correction by antisense therapy of a splicing mutation in the GALT gene.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 500, doi. 10.1038/ejhg.2014.149
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- Article
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 494, doi. 10.1038/ejhg.2014.133
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Pathway analysis with next-generation sequencing data.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 507, doi. 10.1038/ejhg.2014.121
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European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 560, doi. 10.1038/ejhg.2015.40
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EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 426, doi. 10.1038/ejhg.2014.131
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A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 543, doi. 10.1038/ejhg.2014.124
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Phenome-wide association studies (PheWASs) for functional variants.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 523, doi. 10.1038/ejhg.2014.123
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Using whole-exome sequencing to identify variants inherited from mosaic parents.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 547, doi. 10.1038/ejhg.2014.125
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EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 417, doi. 10.1038/ejhg.2014.185
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Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. -1, doi. 10.1038/ejhg.2014.178
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European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 438, doi. 10.1038/ejhg.2014.127
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Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 445, doi. 10.1038/ejhg.2014.159
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No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 555, doi. 10.1038/ejhg.2014.228
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EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 560, doi. 10.1038/ejhg.2015.39
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