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Results 1 to 25 of 12198

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Morphology of 9p21 Homozygous Deletion-Positive Pleural Mesothelioma Cells Analyzed Using Fluorescence In Situ Hybridization and Virtual Microscope System in Effusion CytologyMATSUMOTO, Shinji; NABESHIMA, Kazuki; KAMEI, Toshiaki et al.Cancer cytopathology. 2013, Vol 121, Num 8, pp 415-422, issn 1934-662X, 8 p.Article

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 PeopleNELSON, Matthew R; WEGMANN, Daniel; WARREN, Liling et al.Science (Washington, D.C.). 2012, Vol 337, Num 6090, pp 100-104, issn 0036-8075, 5 p.Article

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosisWU, Chi-Hong; FALLINI, Claudia; KOST, Jason E et al.Nature (London). 2012, Vol 488, Num 7412, pp 499-503, issn 0028-0836, 5 p.Article

Whole―genome analysis informs breast cancer response to aromatase inhibitionELLIS, Matthew J; LI DING; NG, Sam et al.Nature (London). 2012, Vol 486, Num 7403, pp 353-360, issn 0028-0836, 8 p.Article

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNAEDERY, Patrick; MARCAILLOU, Charles; JOUK, Pierre-Simon et al.Science (Washington, D.C.). 2011, Vol 332, Num 6026, pp 240-243, issn 0036-8075, 4 p.Article

Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12MUHAMMAD, Emad; LEVENTHAL, Neta; NAGAR, Tal et al.Human genetics. 2011, Vol 129, Num 4, pp 397-405, issn 0340-6717, 9 p.Article

Model-based prediction of human hair color using DNA variantsBRANICKI, Wojciech; FAN LIU; VAN DUIJN, Kate et al.Human genetics. 2011, Vol 129, Num 4, pp 443-454, issn 0340-6717, 12 p.Article

Xist regulation and function eXploredPONTIER, Daphne B; GRIBNAU, Joost.Human genetics. 2011, Vol 130, Num 2, pp 223-236, issn 0340-6717, 14 p.Article

A scaffold for X chromosome inactivationTATTERMUSCH, Anna; BROCKDORFF, Neil.Human genetics. 2011, Vol 130, Num 2, pp 247-253, issn 0340-6717, 7 p.Article

The X-inactivation trans-activator Rnfl2 is negatively regulated by pluripotency factors in embryonic stem cellsNAVARRO, Pablo; MOFFAT, Michael; MULLIN, Nicholas P et al.Human genetics. 2011, Vol 130, Num 2, pp 255-264, issn 0340-6717, 10 p.Article

Mechanistic insights into chromosome-wide silencing in X inactivationARTHOLD, Susanne; KUROWSKI, Agata; WUTZ, Anton et al.Human genetics. 2011, Vol 130, Num 2, pp 295-305, issn 0340-6717, 11 p.Article

A genome-wide survey does not show the genetic distinctiveness of BasquesLAAYOUNI, Hafid; CALAFELL, Francesc; BERTRANPETIT, Jaume et al.Human genetics. 2010, Vol 127, Num 4, pp 455-458, issn 0340-6717, 4 p.Article

A homozygous mutation in LTBP2 causes isolated microspherophakiaKUMAR, Arun; DUVVARI, Maheswara R; PRABHAKARAN, Venkatesh C et al.Human genetics. 2010, Vol 128, Num 4, pp 365-371, issn 0340-6717, 7 p.Article

Copy number variants at Williams-Beuren syndrome 7q11.23 regionMERLA, Giuseppe; BRUNETTI-PIERRI, Nicola; MICALE, Lucia et al.Human genetics. 2010, Vol 128, Num 1, pp 3-26, issn 0340-6717, 24 p.Article

Genome-wide analysis of the structure of the South African Coloured Population in the Western CapeDE WIT, Erika; DELPORT, Wayne; RUGAMIKA, Chimusa E et al.Human genetics. 2010, Vol 128, Num 2, pp 145-153, issn 0340-6717, 9 p.Article

SNPs for a universal individual identification panelPAKSTIS, Andrew J; SPEED, William C; RIXUN FANG et al.Human genetics. 2010, Vol 127, Num 3, pp 315-324, issn 0340-6717, 10 p.Article

A large-scale candidate gene association study of age at menarche and age at natural menopauseCHUNYAN HE; KRAFT, Peter; CHASMAN, Daniel I et al.Human genetics. 2010, Vol 128, Num 5, pp 515-527, issn 0340-6717, 13 p.Article

The search for associationBAKER, Monya.Nature (London). 2010, Vol 467, Num 7319, pp 1135-1138, issn 0028-0836, 4 p.Article

A census of human transcription factors : function, expression and evolutionVAQUERIZAS, Juan M; KUMMERFELD, Sarah K; TEICHMANN, Sarah A et al.Nature reviews. Genetics (Print). 2009, Vol 10, Num 4, pp 252-263, issn 1471-0056, 12 p.Article

Advances in osteoclast biology resulting from the study of osteopetrotic mutationsSEGOVIA-SILVESTRE, T; NEUTZSKY-WULFF, A. V; SORENSEN, M. G et al.Human genetics. 2009, Vol 124, Num 6, pp 561-577, issn 0340-6717, 17 p.Article

Common polymorphic variation in the genetically diverse African insulin gene and its association with size at birthPETRY, Clive J; RAYCO-SOLON, Pura; FULFORD, Anthony J. C et al.Human genetics. 2009, Vol 126, Num 3, pp 375-384, issn 0340-6717, 10 p.Article

Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotypeCAMERON, J. M; MAJ, M; LEVANDOVSKIY, V et al.Human genetics. 2009, Vol 125, Num 3, pp 319-326, issn 0340-6717, 8 p.Article

Strengthening the reporting of genetic association studies (STREGA) : an extension of the STROBE StatementLITTLE, Julian; HIGGINS, Julian P. T; SCHEET, Paul et al.Human genetics. 2009, Vol 125, Num 2, pp 131-151, issn 0340-6717, 21 p.Article

Targeted capture and massively parallel sequencing of 12 human exomesNG, Sarah B; TURNER, Emily H; BAMSHAD, Michael et al.Nature (London). 2009, Vol 461, Num 7261, pp 272-276, issn 0028-0836, 5 p.Article

Uterine leiomyomata and decreased height : a common HMGA2 predisposition alleleHODGE, Jennelle C; CUENCO, Karen T; HUYCK, Karen L et al.Human genetics. 2009, Vol 125, Num 3, pp 257-263, issn 0340-6717, 7 p.Article

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