Works matching IS 10184813 AND DT 2013 AND VI 21 AND IP 10
Results: 33
Clinical utility gene card for: Joubert Syndrome - update 2013.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1, doi. 10.1038/ejhg.2013.10
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Positive selection of protective variants for type 2 diabetes from the Neolithic onward: a case study in Central Asia.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1146, doi. 10.1038/ejhg.2012.295
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Clinical utility gene card for: Diamond - Blackfan Anemia - update 2013.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1, doi. 10.1038/ejhg.2013.34
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Clinical utility gene card for: Dilated Cardiomyopathy (CMD).
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1, doi. 10.1038/ejhg.2012.276
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Inference of identity by descent in population isolates and optimal sequencing studies.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1140, doi. 10.1038/ejhg.2012.307
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Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1035, doi. 10.1038/ejhg.2013.9
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Influence of TIMP3/SYN3 polymorphisms on the phenotypic presentation of age-related macular degeneration.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1152, doi. 10.1038/ejhg.2013.14
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The personal experience of parenting a child with Juvenile Huntington's Disease: perceptions across Europe.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1042, doi. 10.1038/ejhg.2013.15
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The influence of clan structure on the genetic variation in a single Ghanaian village.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1134, doi. 10.1038/ejhg.2013.12
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A Delphi study to determine the European core curriculum for Master programmes in genetic counselling.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1060, doi. 10.1038/ejhg.2012.302
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Stargardt Disease: towards developing a model to predict phenotype.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1173, doi. 10.1038/ejhg.2013.92
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Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1054, doi. 10.1038/ejhg.2012.297
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Clinical utility gene card for: Lesch-Nyhan Syndrome - update 2013.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1, doi. 10.1038/ejhg.2012.304
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Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1100, doi. 10.1038/ejhg.2013.17
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Clinical utility gene card for: Long-QT Syndrome (types 1-13).
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1, doi. 10.1038/ejhg.2013.28
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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1074, doi. 10.1038/ejhg.2012.305
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Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1120, doi. 10.1038/ejhg.2013.2
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Clinical utility gene card for: poikiloderma with neutropenia.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1, doi. 10.1038/ejhg.2012.298
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Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1093, doi. 10.1038/ejhg.2013.1
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HLA-DQB1*02 and DQB1*06:03P are associated with peanut allergy.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1181, doi. 10.1038/ejhg.2013.13
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Clinical utility gene card for: Gorlin Syndrome - update 2013.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1, doi. 10.1038/ejhg.2012.299
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A global map for dissecting phenotypic variants in human lincRNAs.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1128, doi. 10.1038/ejhg.2013.7
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Molecular and clinical delineation of the 17q22 microdeletion phenotype.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1085, doi. 10.1038/ejhg.2012.306
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- Article
Stargardt disease: towards developing a model to predict phenotype.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1190, doi. 10.1038/ejhg.2013.179
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Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1112, doi. 10.1038/ejhg.2013.5
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Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1067, doi. 10.1038/ejhg.2013.3
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Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1105, doi. 10.1038/ejhg.2013.16
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Functional and genetic characterization of two extremely rare cases of Williams-Beuren Syndrome associated with chronic granulomatous disease.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1079, doi. 10.1038/ejhg.2012.310
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Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK).
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1049, doi. 10.1038/ejhg.2012.301
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Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1177, doi. 10.1038/ejhg.2013.18
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Family-based association tests for sequence data, and comparisons with population-based association tests.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1158, doi. 10.1038/ejhg.2012.308
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Where Birt-Hogg-Dubé meets Cowden Syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1169, doi. 10.1038/ejhg.2013.8
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Meta-analysis of telomere length in 19 713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1163, doi. 10.1038/ejhg.2012.303
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