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Results 1 to 25 of 1810

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A large duplication involving the IHH locus mimics acrocallosal syndromeYUKSEL-APAK, Memnune; BÖGERSHAUSEN, Nina; GRZESCHIK, Karl-Heinz et al.European journal of human genetics. 2012, Vol 20, Num 6, pp 639-644, issn 1018-4813, 6 p.Article

Afghanistan from a Y-chromosome perspectiveLACAU, Harlette; GAYDEN, Tenzin; REGUEIRO, Maria et al.European journal of human genetics. 2012, Vol 20, Num 10, pp 1063-1070, issn 1018-4813, 8 p.Article

Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease processKUOT, Abraham; HEWITT, Alex W; GRIGGS, Kim et al.European journal of human genetics. 2012, Vol 20, Num 6, pp 632-638, issn 1018-4813, 7 p.Article

C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndromeKLÜPPEL, Michael; SAMAVARCHI-TEHRANI, Payman; LIU, Kela et al.European journal of human genetics. 2012, Vol 20, Num 8, pp 870-877, issn 1018-4813, 8 p.Article

Characterization of the intronic portion of cadherin superfamily members, common cancer orchestratorsOLIVEIRA, Patricia; SANGES, Remo; HUNTSMAN, David et al.European journal of human genetics. 2012, Vol 20, Num 8, pp 878-883, issn 1018-4813, 6 p.Article

Codon 72 polymorphism (rs1042522) of TP53 is associated with changes in diastolic blood pressure over timeREILING, Erwin; LYSSENKO, Valeriya; BOER, Jolanda Ma et al.European journal of human genetics. 2012, Vol 20, Num 6, pp 696-700, issn 1018-4813, 5 p.Article

Consanguinity in Centre d'Étude du Polymorphisme Humain (CEPH) pedigreesSTEVENS, Eric L; HECKENBERG, Greg; BAUGHER, Joseph D et al.European journal of human genetics. 2012, Vol 20, Num 6, pp 657-667, issn 1018-4813, 11 p.Article

Direct-to-consumer genomic testing: systematic review of the Iiterature on user perspectivesGOLDSMITH, Lesley; JACKSON, Leigh; O'CONNOR, Anita et al.European journal of human genetics. 2012, Vol 20, Num 8, pp 811-816, issn 1018-4813, 6 p.Article

Discrepancies in reporting the CAG repeat lengths for Huntington's diseaseQUARRELL, Oliver W; HANDLEY, Olivia; O'DONOVAN, Kirsty et al.European journal of human genetics. 2012, Vol 20, Num 1, pp 20-26, issn 1018-4813, 7 p.Article

Disease gene identification strategies for exome sequencingGILISSEN, Christian; HOISCHEN, Alexander; BRUNNER, Han G et al.European journal of human genetics. 2012, Vol 20, Num 5, pp 490-497, issn 1018-4813, 8 p.Article

Effects of single-nucleotide polymorphisms in the human holocarboxylase synthetase gene on enzyme catalysisESAKI, Shingo; MALKARAM, Sridhar A; ZEMPLENI, Janos et al.European journal of human genetics. 2012, Vol 20, Num 4, pp 428-433, issn 1018-4813, 6 p.Article

Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47BALOG, Judit; MILLER, Dan; SANCHEZ-CURTAILLES, Elena et al.European journal of human genetics. 2012, Vol 20, Num 2, pp 185-191, issn 1018-4813, 7 p.Article

Estimating the contribution of genetic variants to difference in incidence of disease between population groupsMOONESINGHE, Ramal; IOANNIDIS, John P. A; DANA FLANDERS, W et al.European journal of human genetics. 2012, Vol 20, Num 8, pp 831-836, issn 1018-4813, 6 p.Article

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutationsFIELD, Michael; SCHEFFER, Ingrid E; FRIEND, Kathryn et al.European journal of human genetics. 2012, Vol 20, Num 7, pp 806-809, issn 1018-4813, 4 p.Article

Genome-wide analysis of epistasis in body mass index using multiple human populationsWEI, Wen-Hua; HEMANI, Gib; RUDAN, Igor et al.European journal of human genetics. 2012, Vol 20, Num 8, pp 857-862, issn 1018-4813, 6 p.Article

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomaliesDELAHAYE, Andrée; BITOUN, Pierre; PASSEMARD, Sandrine et al.European journal of human genetics. 2012, Vol 20, Num 5, pp 527-533, issn 1018-4813, 7 p.Article

Improved access to life insurance after genetic diagnosis of familial hypercholesterolaemia: cross-sectional postal questionnaire studyHUIJGEN, Roeland; HOMSMA, Sietske J. M; HUTTEN, Barbara A et al.European journal of human genetics. 2012, Vol 20, Num 7, pp 722-728, issn 1018-4813, 7 p.Article

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patientsRUSSO, Silvia; MASCIADRI, Maura; TENCONI, Romano et al.European journal of human genetics. 2012, Vol 20, Num 7, pp 734-741, issn 1018-4813, 8 p.Article

MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness studyGAUSACHS, Mireia; MUR, Pilar; GRUBER, Stephen B et al.European journal of human genetics. 2012, Vol 20, Num 7, pp 762-768, issn 1018-4813, 7 p.Article

Mini-haplotypes as lineage informative SNPs and ancestry inference SNPsPAKSTIS, Andrew J; RIXUN FANG; FURTADO, Manohar R et al.European journal of human genetics. 2012, Vol 20, Num 11, pp 1148-1154, issn 1018-4813, 7 p.Article

Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilizationHANDYSIDE, Alan H; MONTAG, Markus; MAGLI, M. Cristina et al.European journal of human genetics. 2012, Vol 20, Num 7, pp 742-747, issn 1018-4813, 6 p.Article

Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotypeVASLI, Nasim; LAUGEL, Vincent; BÖHM, Johann et al.European journal of human genetics. 2012, Vol 20, Num 6, pp 701-704, issn 1018-4813, 4 p.Article

On the statistical properties of family-based association tests in datasets containing both pedigrees and unrelated case-control samplesHIEKKALINNA, Tero; GÖRING, Harald Hh; LAMBERT, Brian et al.European journal of human genetics. 2012, Vol 20, Num 2, pp 217-223, issn 1018-4813, 7 p.Article

Pathway-based genome-wide association analysis of coronary heart disease identifies biologically important gene setsDE LAS FUENTES, Lisa; WEI YANG; DAVILA-ROMAN, Victor G et al.European journal of human genetics. 2012, Vol 20, Num 11, pp 1168-1173, issn 1018-4813, 6 p.Article

Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosisVAN LIER, Margot Gf; KORSSE, Susanne E; MATHUS-VLIEGEN, Elisabeth Mh et al.European journal of human genetics. 2012, Vol 20, Num 2, pp 236-239, issn 1018-4813, 4 p.Article

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