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Results 1 to 25 of 1169

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Imaging genetics of FOXP2 in dyslexiaWILCKE, Arndt; LIGGES, Carolin; CICHON, Sven et al.European journal of human genetics. 2012, Vol 20, Num 2, pp 224-229, issn 1018-4813, 6 p.Article

A family-based association test to detect gene-gene interactions in the presence of linkageDE LOBEL, Lizzy; THIJS, Lutgarde; KOUZNETSOVA, Tatiana et al.European journal of human genetics. 2012, Vol 20, Num 9, pp 973-980, issn 1018-4813, 8 p.Article

A flexible likelihood framework for detecting associations with secondary phenotypes in genetic studies using selected samples: application to sequence dataLIU, Dajiang J; LEAL, Suzanne M.European journal of human genetics. 2012, Vol 20, Num 4, pp 449-456, issn 1018-4813, 8 p.Article

A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer diseaseROVELET-LECRUX, Anne; LEGALLIC, Solenn; PUEL, Michele et al.European journal of human genetics. 2012, Vol 20, Num 6, pp 613-617, issn 1018-4813, 5 p.Article

A large-sample assessment of possible association between ischaemic stroke and rs12188950 in the PDE4D geneLÖVKVIST, Hakan; OLSSON, Sandra; DELAVARAN, Hossein et al.European journal of human genetics. 2012, Vol 20, Num 7, pp 783-789, issn 1018-4813, 7 p.Article

A systematic eQTL study of cis-trans epistasis in 210 HapMap individualsBECKER, Jessica; WENDLAND, Jens R; HAENISCH, Britta et al.European journal of human genetics. 2012, Vol 20, Num 1, pp 97-101, issn 1018-4813, 5 p.Article

An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practiceBRETT, Gemma R; METCALFE, Sylvia A; AMOR, David J et al.European journal of human genetics. 2012, Vol 20, Num 8, pp 825-830, issn 1018-4813, 6 p.Article

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial diseaseDER WALT, Elizna M.van; SMUTS, Izelle; TAYLOR, Robert W et al.European journal of human genetics. 2012, Vol 20, Num 6, pp 650-656, issn 1018-4813, 7 p.Article

De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention ProblemsEHLI, Erik A; ABDELLAOUI, Abdel; DE GEUS, Eco J et al.European journal of human genetics. 2012, Vol 20, Num 10, pp 1037-1043, issn 1018-4813, 7 p.Article

De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivityVENGOECHEA, Jaime; PARIKH, Aditi S; SHULIN ZHANG et al.European journal of human genetics. 2012, Vol 20, Num 11, pp 1197-1200, issn 1018-4813, 4 p.Article

First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasisPASMANT, Eric; GOUSSARD, Philippe; VIDAUD, Michel et al.European journal of human genetics. 2012, Vol 20, Num 3, pp 277-282, issn 1018-4813, 6 p.Article

Genome-wide homozygosity and multiple sclerosis in Orkney and Shetland IslandersMCWHIRTER, Rebekah E; MCQUILLAN, Ruth; VISSER, Elizabeth et al.European journal of human genetics. 2012, Vol 20, Num 2, pp 198-202, issn 1018-4813, 5 p.Article

Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areataFORSTBAUER, Lina M; BROCKSCHMIDT, Felix F; ALBLAS, Margrieta et al.European journal of human genetics. 2012, Vol 20, Num 3, pp 326-332, issn 1018-4813, 7 p.Article

Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndromeBOWMAN, Michael; OLDRIDGE, Michael; ARCHER, Caroline et al.European journal of human genetics. 2012, Vol 20, Num 7, pp 769-777, issn 1018-4813, 9 p.Article

High prevalence of genetic variants previously associated with LQT syndrome in new exome dataREFSGAARD, Lena; HOLST, Anders G; SADJADIEH, Golnaz et al.European journal of human genetics. 2012, Vol 20, Num 8, pp 905-908, issn 1018-4813, 4 p.Article

Homozygous SMN2 deletion is a protective factor in the Swedish ALS populationCORCIA, Philippe; INGRE, Caroline; VOURC'H, Patrick et al.European journal of human genetics. 2012, Vol 20, Num 5, pp 588-591, issn 1018-4813, 4 p.Article

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short statureBENITO-SANZ, Sara; AZA-CARMONA, Miriam; RODRIGUEZ-ESTEVEZ, Amaya et al.European journal of human genetics. 2012, Vol 20, Num 1, pp 125-127, issn 1018-4813, 3 p.Article

Lactose malabsorption is a risk factor for decreased bone mineral density in pancreatic insufficient cystic fibrosis patientsMADRY, Edyta; KRASINSKA, Beata; WALKOWIAK, Jarostaw et al.European journal of human genetics. 2012, Vol 20, Num 10, pp 1092-1095, issn 1018-4813, 4 p.Article

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosisDE MUNNIK, Sonja A; BICKNELL, Louise S; HAGEN, Johanna M.van et al.European journal of human genetics. 2012, Vol 20, Num 6, pp 598-606, issn 1018-4813, 9 p.Article

Quality assurance practices in Europe: a survey of molecular genetic testing laboratoriesBERWOUTS, Sarah; FANNING, Katrina; MORRIS, Michael A et al.European journal of human genetics. 2012, Vol 20, Num 11, pp 1118-1126, issn 1018-4813, 9 p.Article

Researchers' opinions towards the communication of results of biobank research: a survey study: This article has been changed from a Short Report to Policy since Advance Online PublicationMEULENKAMP, Tineke M; GEVERS, Sjef Jk; BOVENBERG, Jasper A et al.European journal of human genetics. 2012, Vol 20, Num 3, pp 258-262, issn 1018-4813, 5 p.Article

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutationsRICHARDS, Allanj; MCNINCH, Annie; WHITTAKER, Joanne et al.European journal of human genetics. 2012, Vol 20, Num 5, pp 552-558, issn 1018-4813, 7 p.Article

Surname and Y chromosome in Southern Europe: a case study with Colom/ColomboMARTINEZ-GONZALEZ, Luis Javier; MARTINEZ-ESPIN, Esther; ALVAREZ, Juan Carlos et al.European journal of human genetics. 2012, Vol 20, Num 2, pp 211-216, issn 1018-4813, 6 p.Article

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutationsGUERRINI, Renzo; MEI, Davide; CORDELLI, Duccio Maria et al.European journal of human genetics. 2012, Vol 20, Num 9, pp 995-998, issn 1018-4813, 4 p.Article

The changing landscape of genetic testing and its impact on clinical and laboratory services and research in EuropeHASTINGS, Ros; DE WERT, Guido; SCHMIDTKE, Jörg et al.European journal of human genetics. 2012, Vol 20, Num 9, pp 911-916, issn 1018-4813, 6 p.Article

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