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Results 1 to 25 of 6817

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A Common Variant in SLC8A1 Is Associated with the Duration of the Electrocardiographic QT IntervalJONG WOOK KIM; HONG, Kyung-Won; MIN JIN GO et al.American journal of human genetics. 2012, Vol 91, Num 1, pp 180-184, issn 0002-9297, 5 p.Article

A Multi-SNP Locus-Association Method Reveals a Substantial Fraction of the Missing HeritabilityEHRET, Georg B; LAMPARTER, David; HOGGART, Clive J et al.American journal of human genetics. 2012, Vol 91, Num 5, pp 863-871, issn 0002-9297, 9 p.Article

A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing LossVON AMELN, Simon; GENG WANG; BORCK, Guntram et al.American journal of human genetics. 2012, Vol 91, Num 5, pp 919-927, issn 0002-9297, 9 p.Article

Five Years of GWAS DiscoveryVISSCHER, Peter M; BROWN, Matthew A; MCCARTHY, Mark I et al.American journal of human genetics. 2012, Vol 90, Num 1, pp 7-24, issn 0002-9297, 18 p.Article

A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter―Tonz SyndromeMORY, Adi; DAGAN, Efrat; AMSELEM, Serge et al.American journal of human genetics. 2012, Vol 90, Num 4, pp 708-714, issn 0002-9297, 7 p.Article

A Subset-Based Approach Improves Power and Interpretation for the Combined Analysis of Genetic Association Studies of Heterogeneous TraitsBHATTACHARJEE, Samsiddhi; RAJARAMAN, Preetha; CHATTERJEE, Nilanjan et al.American journal of human genetics. 2012, Vol 90, Num 5, pp 821-835, issn 0002-9297, 15 p.Article

Age-Related Somatic Structural Changes in the Nuclear Genome of Human Blood CellsFORSBERG, Lars A; RASI, Chiara; WESTERMAN, Maxwell P et al.American journal of human genetics. 2012, Vol 90, Num 2, pp 217-228, issn 0002-9297, 12 p.Article

Alzheimer Disease Susceptibility Loci: Evidence for a Protein Network under Natural SelectionRAJ, Towfique; SHULMAN, Joshua M; KEENAN, Brendan T et al.American journal of human genetics. 2012, Vol 90, Num 4, pp 720-726, issn 0002-9297, 7 p.Article

Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study CohortsBICK, Alexander G; FLANNICK, Jason; FUNKE, Birgit H et al.American journal of human genetics. 2012, Vol 91, Num 3, pp 513-519, issn 0002-9297, 7 p.Article

DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and EvolutionDUMAS, Laura J; O'BLENESS, Majesta S; RAPOPORT, Judith et al.American journal of human genetics. 2012, Vol 91, Num 3, pp 444-454, issn 0002-9297, 11 p.Article

Genetic Architecture of MicroRNA Expression: Implications for the Transcriptome and Complex TraitsGAMAZON, Eric R; ZILIAK, Dana; HAE KYUNG IM et al.American journal of human genetics. 2012, Vol 90, Num 6, pp 1046-1063, issn 0002-9297, 18 p.Article

Genetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery DiseaseWEIHONG TANG; SCHWIENBACHER, Christine; LOWE, Gordon D. O et al.American journal of human genetics. 2012, Vol 91, Num 1, pp 152-162, issn 0002-9297, 11 p.Article

Genetically Determined Partial Complement C4 Deficiency States Are Not Independent Risk Factors for SLE in UK and Spanish PopulationsBOTEVA, Lora; MORRIS, David L; CORTES-HERNANDEZ, Josefina et al.American journal of human genetics. 2012, Vol 90, Num 3, pp 445-456, issn 0002-9297, 12 p.Article

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager SyndromeBERNIER, Francois P; CALUSERIU, Oana; BYERS, Peter H et al.American journal of human genetics. 2012, Vol 90, Num 5, pp 925-933, issn 0002-9297, 9 p.Article

Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 MutationGARCIA-DIAZ, Beatriz; BARROS, Mario H; DE VIVO, Darryl C et al.American journal of human genetics. 2012, Vol 91, Num 4, pp 729-736, issn 0002-9297, 8 p.Article

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFBZANKL, Andreas; DUNCAN, Emma L; MCTAGGART, Steven et al.American journal of human genetics. 2012, Vol 90, Num 3, pp 494-501, issn 0002-9297, 8 p.Article

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular AggregatesBELAYA, Katsiaryna; FINLAYSON, Sarah; PASCUAL PASCUAL, Samuel I et al.American journal of human genetics. 2012, Vol 91, Num 1, pp 193-201, issn 0002-9297, 9 p.Article

Mutations in EZH2 Cause Weaver SyndromeGIBSON, William T; HOOD, Rebecca L; MARRA, Marco A et al.American journal of human genetics. 2012, Vol 90, Num 1, pp 110-118, issn 0002-9297, 9 p.Article

Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing LossYARIZ, Kemal O; DUMAN, Duygu; OOSTRIK, Jaap et al.American journal of human genetics. 2012, Vol 91, Num 5, pp 872-882, issn 0002-9297, 11 p.Article

Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic AcidosisGHEZZI, Daniele; BARUFFINI, Enrico; PROKISCH, Holger et al.American journal of human genetics. 2012, Vol 90, Num 6, pp 1079-1087, issn 0002-9297, 9 p.Article

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis SyndromeHERON, Sarah E; GRINTON, Bronwyn E; PELEKANOS, James et al.American journal of human genetics. 2012, Vol 90, Num 1, pp 152-160, issn 0002-9297, 9 p.Article

PSORS2 Is Due to Mutations in CARD 14JORDAN, Catherine T; LI CAO; YONGQING CHEN et al.American journal of human genetics. 2012, Vol 90, Num 5, pp 784-795, issn 0002-9297, 12 p.Article

RAD21 Mutations Cause a Human CohesinopathyDEARDORFF, Matthew A; WILDE, Jonathan J; CLARK, Dinah et al.American journal of human genetics. 2012, Vol 90, Num 6, pp 1014-1027, issn 0002-9297, 14 p.Article

RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer SyndromeBLAYDON, Diana C; ETHERIDGE, Sarah L; TIMOTHY BISHOP, D et al.American journal of human genetics. 2012, Vol 90, Num 2, pp 340-346, issn 0002-9297, 7 p.Article

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A MutationSARIG, Ofer; NAHUM, Sagi; BOROCHOWITZ, Zvi-Uri et al.American journal of human genetics. 2012, Vol 91, Num 2, pp 337-342, issn 0002-9297, 6 p.Article

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