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Results 1 to 25 of 7797

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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 greatly extended PPARGC1A genomic locus encodes several new brain-specific isoforms and influences Huntington disease age of onsetSOYAL, Selma M; FELDER, Thomas K; AUER, Simon et al.Human molecular genetics (Print). 2012, Vol 21, Num 15, pp 3461-3473, issn 0964-6906, 13 p.Article

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processingSOLDA, Giulia; ROBUSTO, Michela; PRIMIGNANI, Paola et al.Human molecular genetics (Print). 2012, Vol 21, Num 3, pp 577-585, issn 0964-6906, 9 p.Article

Admixture mapping identifies a locus on 6q25 associated with breast cancer risk in US LatinasFEJERMAN, Laura; CHEN, Gary K; INGLES, Sue et al.Human molecular genetics (Print). 2012, Vol 21, Num 8, pp 1907-1917, issn 0964-6906, 11 p.Article

Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphologyENGL, Gertraud; FLORIAN, Stefan; TRANEBJAERG, Lisbeth et al.Human molecular genetics (Print). 2012, Vol 21, Num 2, pp 287-299, issn 0964-6906, 13 p.Article

Alterations of social interaction through genetic and environmental manipulation of the 22q11.2 gene Sept5 in the mouse brainHARPER, Kathryn M; HIRAMOTO, Takeshi; TANIGAKI, Kenji et al.Human molecular genetics (Print). 2012, Vol 21, Num 15, pp 3489-3499, issn 0964-6906, 11 p.Article

Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathyLING YI; DONSANTE, Anthony; KENNERSON, Marina L et al.Human molecular genetics (Print). 2012, Vol 21, Num 8, pp 1794-1807, issn 0964-6906, 14 p.Article

Bcl-2-associated autophagy regulator Naf-1 required for maintenance of skeletal muscleCHANG, Natasha C; NGUYEN, Mai; BOURDON, Johanne et al.Human molecular genetics (Print). 2012, Vol 21, Num 10, pp 2277-2287, issn 0964-6906, 11 p.Article

Calsyntenin-1 mediates axonal transport of the amyloid precursor protein and regulates Aβ productionVAGNONI, Alessio; PERKINTON, Michael S; GRAY, Emma H et al.Human molecular genetics (Print). 2012, Vol 21, Num 13, pp 2845-2854, issn 0964-6906, 10 p.Article

Cerebrospinal fluid APOE levels: an endophenotype for genetic studies for Alzheimer's diseaseCRUCHAGA, Carlos; KAUWE, John S. K; MORRIS, John C et al.Human molecular genetics (Print). 2012, Vol 21, Num 20, pp 4558-4571, issn 0964-6906, 14 p.Article

Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasisKNIGHT, Jo; SPAIN, Sarah L; CAPON, Francesca et al.Human molecular genetics (Print). 2012, Vol 21, Num 23, pp 5185-5192, issn 0964-6906, 8 p.Article

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanismsOCHALA, Julien; GOKHIN, David S; PENISSON-BESNIER, Isabelle et al.Human molecular genetics (Print). 2012, Vol 21, Num 20, pp 4473-4485, issn 0964-6906, 13 p.Article

Derivation of new human embryonic stem cell lines reveals rapid epigenetic progression in vitro that can be prevented by chemical modification of chromatinDIAZ PEREZ, Silvia V; KIM, Rachel; ZIWEI LI et al.Human molecular genetics (Print). 2012, Vol 21, Num 4, pp 751-764, issn 0964-6906, 14 p.Article

Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22JONES, Erin A; BREWER, Megan H; SRINIVASAN, Rajini et al.Human molecular genetics (Print). 2012, Vol 21, Num 7, pp 1581-1591, issn 0964-6906, 11 p.Article

Drosophila FMRP participates in the DNA damage response by regulating G2/M cell cycle checkpoint and apoptosisWEI LIU; FANGFANG JIANG; XIAOLIN BI et al.Human molecular genetics (Print). 2012, Vol 21, Num 21, pp 4655-4668, issn 0964-6906, 14 p.Article

Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora diseasePURI, Rajat; SUZUKI, Toshimitsu; YAMAKAWA, Kazuhiro et al.Human molecular genetics (Print). 2012, Vol 21, Num 1, pp 175-184, issn 0964-6906, 10 p.Article

Early complex I assembly defects result in rapid turnover of the ND1 subunitZURITA RENDON, Olga; SHOUBRIDGE, Eric A.Human molecular genetics (Print). 2012, Vol 21, Num 17, pp 3815-3824, issn 0964-6906, 10 p.Article

Effect of bezafibrate treatment on late-onset mitochondrial myopathy in miceYATSUGA, Shuichi; SUOMALAINEN, Anu.Human molecular genetics (Print). 2012, Vol 21, Num 3, pp 526-535, issn 0964-6906, 10 p.Article

Evidence for an oligogenic basis of amyotrophic lateral sclerosisBLITTERSWIJK, Marka Van; ES, Michael A. Van; DE BAKKER, Paul I. W et al.Human molecular genetics (Print). 2012, Vol 21, Num 17, pp 3776-3784, issn 0964-6906, 9 p.Article

Functional characterization of tissue-specific enhancers in the DLX5/6 locusBIRNBAUM, Ramon Y; EVERMAN, David B; MURPHY, Karl K et al.Human molecular genetics (Print). 2012, Vol 21, Num 22, pp 4930-4938, issn 0964-6906, 9 p.Article

Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse modelYI CHUN CHEN; GATCHEL, Jennifer R; LEWIS, Rebecca W et al.Human molecular genetics (Print). 2012, Vol 21, Num 2, pp 394-405, issn 0964-6906, 12 p.Article

Gene therapy restores vision and delays degeneration in the CNGB1―/― mouse model of retinitis pigmentosaKOCH, Susanne; SOTHILINGAM, Vithiyanjali; MÜHLFRIEDEL, Regine et al.Human molecular genetics (Print). 2012, Vol 21, Num 20, pp 4486-4496, issn 0964-6906, 11 p.Article

Genetic and epigenetic mechanisms collaborate to control SERPINA3 expression and its association with placental diseasesCHELBI, Sonia T; WILSON, Melissa L; CARBONNE, Bruno et al.Human molecular genetics (Print). 2012, Vol 21, Num 9, pp 1968-1978, issn 0964-6906, 11 p.Article

Genetic polymorphism of cytochrome P450 2D6 determines oestrogen receptor activity of the major infertility drug clomiphene via its active metabolitesMÜRDTER, Thomas E; KERB, Reinhold; SCHWAB, Matthias et al.Human molecular genetics (Print). 2012, Vol 21, Num 5, pp 1145-1154, issn 0964-6906, 10 p.Article

Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African AmericansCHEN, Guanjie; BENTLEY, Amy; HERBERT, Alan et al.Human molecular genetics (Print). 2012, Vol 21, Num 20, pp 4530-4536, issn 0964-6906, 7 p.Article

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