Role of pharmacogenetics in public health and clinical health care: a SWOT analysis (English)
- New search for: Kapoor, R.
- New search for: Tan-Koi, W. C.
- New search for: Teo, Y. Y.
- New search for: Kapoor, R.
- New search for: Tan-Koi, W. C.
- New search for: Teo, Y. Y.
In:
EUROPEAN JOURNAL OF HUMAN GENETICS
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24
, 12
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1651-1657
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2016
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ISSN:
- Article (Journal) / Print
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Title:Role of pharmacogenetics in public health and clinical health care: a SWOT analysis
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Contributors:
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Published in:EUROPEAN JOURNAL OF HUMAN GENETICS ; 24, 12 ; 1651-1657
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Publisher:
- New search for: Nature Publishing Group
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Publication date:2016-01-01
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Size:7 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 599.435
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Classification:
DDC: 599.435 -
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© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 24, Issue 12
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1651
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Role of pharmacogenetics in public health and clinical health care: a SWOT analysisKapoor, R. / Tan-Koi, W. C. / Teo, Y. Y. et al. | 2016
- 1658
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A brighter future for the implementation of pharmacogenomic testingvan der Wouden, C. H. / Swen, J. J. / Samwald, M. / Mitropoulou, C. / Schwab, M. / Guchelaar, H. J. et al. | 2016
- 1661
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Rare variants in dementia genes and Parkinson’s diseaseIqbal, Z. / Pihlstrom, L. / Rengmark, A. / Henriksen, S. P. / Linder, J. / Forsgren, L. / Toft, M. et al. | 2016
- 1663
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MSX1 mutations and associated disease phenotypes: genotype-phenotype relationsLiang, J. / Von den Hoff, J. / Lange, J. / Ren, Y. / Bian, Z. / Carels, C. E. et al. | 2016
- 1671
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Who should have access to genomic data and how should they be held accountable? Perspectives of Data Access Committee members and expertsShabani, M. / Thorogood, A. / Borry, P. et al. | 2016
- 1676
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Registered access: a ‘Triple-A’ approachDyke, S. O. / Kirby, E. / Shabani, M. / Thorogood, A. / Kato, K. / Knoppers, B. M. et al. | 2016
- 1681
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Whole-exome sequencing in pediatrics: parents’ considerations toward return of unsolicited findings for their childCornelis, C. / Tibben, A. / Dondorp, W. / van Haelst, M. / Bredenoord, A. L. / Knoers, N. / Duwell, M. / Bolt, I. / van Summeren, M. et al. | 2016
- 1688
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Genotype and brain pathology phenotype in children with tuberous sclerosis complexOverwater, I. E. / Swenker, R. / van der Ende, E. L. / Hanemaayer, K. B. / Hoogeveen-Westerveld, M. / van Eeghen, A. M. / Lequin, M. H. / van den Ouweland, A. M. / Moll, H. A. / Nellist, M. et al. | 2016
- 1696
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Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? A randomized, double-blind, placebo-controlled trialZwanenburg, R. J. / Bocca, G. / Ruiter, S. A. / Dillingh, J. H. / Flapper, B. C. / van den Heuvel, E. R. / van Ravenswaaij-Arts, C. M. et al. | 2016
- 1702
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Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathyTsutsumi, M. / Yokoi, S. / Miya, F. / Miyata, M. / Kato, M. / Okamoto, N. / Tsunoda, T. / Yamasaki, M. / Kanemura, Y. / Kosaki, K. et al. | 2016
- 1707
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Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genesWills, E. S. / Cnossen, W. R. / Veltman, J. A. / Woestenenk, R. / Steehouwer, M. / Salomon, J. / te Morsche, R. H. / Huch, M. / Hehir-Kwa, J. Y. / Banning, M. J. et al. | 2016
- 1715
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Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistulaBrosens, E. / Marsch, F. / de Jong, E. M. / Zaveri, H. P. / Hilger, A. C. / Choinitzki, V. G. / Holscher, A. / Hoffmann, P. / Herms, S. / Boemers, T. M. et al. | 2016
- 1724
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Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndromevan der Werf, I. M. / Buiting, K. / Czeschik, C. / Reyniers, E. / Vandeweyer, G. / Vanhaesebrouck, P. / Ludecke, H. J. / Wieczorek, D. / Horsthemke, B. / Mortier, G. et al. | 2016
- 1730
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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsBonnet, C. / Riahi, Z. / Chantot-Bastaraud, S. / Smagghe, L. / Letexier, M. / Marcaillou, C. / Lef&evre, G. M. / Hardelin, J. P. / El-Amraoui, A. / Singh-Estivalet, A. et al. | 2016
- 1739
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De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowthSchafgen, J. / Cremer, K. / Becker, J. / Wieland, T. / Zink, A. M. / Kim, S. / Windheuser, I. C. / Krei, M. / Aretz, S. / Strom, T. M. et al. | 2016
- 1746
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Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndromeCarapito, R. / Goldenberg, A. / Paul, N. e. / Pichot, A. / David, A. / Hamel, A. / Dumant-Forest, C. / Leroux, J. / Ory, B. / Isidor, B. et al. | 2016
- 1752
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Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)Monroe, G. R. / Kappen, I. F. / Stokman, M. F. / Terhal, P. A. / van den Boogaard, M. J. / Savelberg, S. M. / van der Veken, L. T. / van Es, R. J. / Lens, S. M. / Hengeveld, R. C. et al. | 2016
- 1761
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Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsyRudolf, G. / Lesca, G. / Mehrjouy, M. M. / Labalme, A. / Salmi, M. / Bache, I. / Bruneau, N. / Pendziwiat, M. / Fluss, J. / de Bellescize, J. et al. | 2016
- 1771
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A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiencyHedberg-Oldfors, C. / Darin, N. / Olsson Engman, M. / Orfanos, Z. / Thomsen, C. / van der Ven, P. F. / Oldfors, A. et al. | 2016
- 1778
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Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunitZeharia, A. / Friedman, J. R. / Tobar, A. / Saada, A. / Konen, O. / Fellig, Y. / Shaag, A. / Nunnari, J. / Elpeleg, O. et al. | 2016
- 1783
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Rare novel variants in the ZIC3 gene cause X-linked heterotaxyPaulussen, A. D. / Steyls, A. / Vanoevelen, J. / van Tienen, F. H. / Krapels, I. P. / Claes, G. R. / Chocron, S. / Velter, C. / Tan-Sindhunata, G. M. / Lundin, C. et al. | 2016
- 1792
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Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin CReinstein, E. / Gutierrez-Fernandez, A. / Tzur, S. / Bormans, C. / Marcu, S. / Tayeb-Fligelman, E. / Vinkler, C. / Raas-Rothschild, A. / Irge, D. / Landau, M. et al. | 2016
- 1797
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Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic settingChristiansen, S. L. / Hertz, C. L. / Ferrero-Miliani, L. / Dahl, M. / Weeke, P. E. / Ottesen, G. L. / Frank-Hansen, R. / Bundgaard, H. / Morling, N. et al. | 2016
- 1803
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Detection of gene–environment interaction in pedigree data using genome-wide genotypesNivard, M. G. / Middeldorp, C. M. / Lubke, G. / Hottenga, J. J. / Abdellaoui, A. / Boomsma, D. I. / Dolan, C. V. et al. | 2016
- 1810
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On the reconciliation of missing heritability for genome-wide association studiesChen, G. B. et al. | 2016
- 1817
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Reduced blood pressure after smooth muscle EFNB2 deletion and the potential association of EFNB2 mutation with human hypertension riskWang, Y. / Hamet, P. / Thorin, E. / Tremblay, J. / Raelson, J. / Wu, Z. / Luo, H. / Jin, W. / Lavoie, J. L. / Peng, J. et al. | 2016
- 1826
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A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin geneRodan, L. H. / Cohen, J. / Fatemi, A. / Gillis, T. / Lucente, D. / Gusella, J. / Picker, J. D. et al. | 2016
- 1828
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SORL1 variants across Alzheimer’s disease European American cohortsFernandez, M. V. / Black, K. / Carrell, D. / Saef, B. / Budde, J. / Deming, Y. / Howells, B. / Del-Aguila, J. L. / Ma, S. / Bi, C. et al. | 2016
- 1830
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Genomics and society—Ethical, Legal, Cultural and Socioeconomic ImplicationHansson, M. et al. | 2016
- 1831
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Ancestry-based stratified analysis of Immunochip data identifies novel associations with celiac diseaseGarcia-Etxebarria, K. / Jauregi-Miguel, A. / Romero-Garmendia, I. / Plaza-Izurieta, L. / Legarda, M. / Irastorza, I. / Bilbao, J. R. et al. | 2016
- 1831
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An introduction to health economics and its application to the implementation of genomic medicineHastings, R. et al. | 2016
- 1832
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A book to learn essentials of classic clinical genetics in the area of genomicsMelegh, B. et al. | 2016