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Results 1 to 25 of 287378

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Host genetic factors respond to pathogenic step-specific virulence factors of Helicobacter pylori in gastric carcinogenesisCAIYUN HE; MOYE CHEN; JINGWEI LIU et al.Mutation research. Reviews in mutation research. 2014, Vol 759, pp 14-26, issn 1383-5742, 13 p.Article

Neuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sitesBENNDORF, Rainer; MARTIN, Jody L; KOSAKOVSKY POND, Sergei L et al.Mutation research. Reviews in mutation research. 2014, Vol 761, pp 15-30, issn 1383-5742, 16 p.Article

IncRNAs: Insights into their function and mechanics in underlying disordersXIAOLEI LI; ZHIQIANG WU; XIAOBING FU et al.Mutation research. Reviews in mutation research. 2014, Vol 762, pp 1-21, issn 1383-5742, 21 p.Article

The history, genotoxicity, and carcinogenicity of carbon-based fuels and their emissions. Part 2: Solid fuelsCLAXTON, Larry D.Mutation research. Reviews in mutation research. 2014, Vol 762, pp 108-122, issn 1383-5742, 15 p.Article

Autosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36Ilefs56SIMMER, S. G; ESTRELLA, Nmrp; MILKOVICH, R. N et al.Clinical genetics. 2013, Vol 83, Num 2, pp 195-197, issn 0009-9163, 3 p.Article

Deciphering the transcriptional cis-regulatory codeOMAR YANEZ-CUNA, J; KVON, Evgeny Z; STARK, Alexander et al.Trends in genetics (Regular ed.). 2013, Vol 29, Num 1, pp 11-22, issn 0168-9525, 12 p.Article

Environmental light and endogenous antioxidants as the main determinants of non-cancer ocular diseasesSACCA, Sergio C; ROSZKOWSKA, Anna Maria; IZZOTTI, Alberto et al.Mutation research. Reviews in mutation research. 2013, Vol 752, Num 2, pp 153-171, issn 1383-5742, 19 p.Article

Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the NetherlandsVAN RIJ, M C; DE DIE-SMULDERS, C.E.M; BIJLSMA, E. K et al.Clinical genetics. 2013, Vol 83, Num 2, pp 118-124, issn 0009-9163, 7 p.Article

Genetic analysis of metabolome― phenotype interactions: from model to crop speciesCARRENO-QUINTERO, Natalia; BOUWMEESTER, Harro J; KEURENTJES, Joost J. B et al.Trends in genetics (Regular ed.). 2013, Vol 29, Num 1, pp 41-50, issn 0168-9525, 10 p.Article

H.J. Muller's contributions to mutation researchAXEL CARLSON, Elof.Mutation research. Reviews in mutation research. 2013, Vol 752, Num 1, pp 1-5, issn 1383-5742, 5 p.Article

Integrating next-generation sequencing into the diagnostic testing of inherited cancer predispositionKU, C. S; COOPER, D. N; LACOPETTA, B et al.Clinical genetics. 2013, Vol 83, Num 1, pp 2-6, issn 0009-9163, 5 p.Article

The many faces of pleiotropyPAABY, Annalise B; ROCKMAN, Matthew V.Trends in genetics (Regular ed.). 2013, Vol 29, Num 2, pp 66-73, issn 0168-9525, 8 p.Article

γH2AX as a marker of DNA double strand breaks and genomic instability in human population studiesVALDIGLESIAS, Vanessa; GIUNTA, Simona; FENECH, Michael et al.Mutation research. Reviews in mutation research. 2013, Vol 753, Num 1, pp 24-40, issn 1383-5742, 17 p.Article

A Girl With Two Syndromes: Turner Syndrome and Costello Syndrome. A Case HistorySKORKA, Agata; CIARA, Elzbieta; GIERUSZCZAK-BIATEK, Dorota et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 6, pp 1486-1488, issn 1552-4825, 3 p.Article

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 Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancerPELTTARL, Liisa M; KIISKI, Johanna; BÜTZOW, Ralf et al.Journal of medical genetics. 2012, Vol 49, Num 7, pp 429-432, issn 0022-2593, 4 p.Article

A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populationsBOSSINI-CASTILIO, Lara; MARTIN, Jose-Ezequiel; GARCIA-HERNANDEZ, Francisco José et al.Human molecular genetics (Print). 2012, Vol 21, Num 4, pp 926-933, issn 0964-6906, 8 p.Article

A MID1 Gene Mutation in a Patient With Opitz G/BBB Syndrome That Altered the 3D Structure of SPRY DomainHU, Ching-Hsuan; LIU, Yu-Fan; YU, Ju-Shan et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 4, pp 726-731, issn 1552-4825, 6 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

A Shared Founder Mutation Underlies Restrictive Dermopathy in Old Colony [Dutch-German] Mennonite and Hutterite Patients in North AmericaLOUCKS, Catrina; PARBOOSINGH, Jillian S; INNES, A. Micheil et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 5, pp 1229-1232, issn 1552-4825, 4 p.Article

Aarskog-Scott syndrome: first report of a duplication in the FGD1 geneRONCE, N; MAYSTADT, I; HUBERT, C et al.Clinical genetics. 2012, Vol 82, Num 1, pp 93-96, issn 0009-9163, 4 p.Article

Association of genomic deletions in the STXBP1 gene with Ohtahara syndromeSAITSU, H; KATO, M; DOI, H et al.Clinical genetics. 2012, Vol 81, Num 4, pp 399-402, issn 0009-9163, 4 p.Article

Congenital Disorder of Glycosylation Ila: The Trouble With Diagnosing a Dysmorphic Inborn Error of MetabolismALAZAMI, Anas M; MONIES, Dorota; MEYER, Brian F et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 1, pp 245-246, issn 1552-4825, 2 p.Article

Developing predictive molecular maps of human disease through community-based modelingDERRY, Jonathan M. J; MANGRAVITE, Lara M; FRIEND, Stephen H et al.Nature genetics. 2012, Vol 44, Num 2, pp 127-130, issn 1061-4036, 4 p.Article

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