يعرض 1 - 20 نتائج من 49 نتيجة بحث عن '"polymerase zeta"', وقت الاستعلام: 0.51s تنقيح النتائج
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    Academic Journal
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    Academic Journal

    المساهمون: Centre of Excellence in Complex Disease Genetics, HUS Abdominal Center, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, Department of Medicine, Clinicum, Gastroenterologian yksikkö, Helsinki University Hospital Area, Research Programs Unit, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Department of Public Health, Samuli Olli Ripatti / Principal Investigator, Complex Disease Genetics, Biostatistics Helsinki, Biosciences

    وصف الملف: application/pdf

    Relation: We would like to thank the many individuals whose sequence data are aggregated in gnomAD for their contributions to research, and for making this work possible. The results published here are in part based upon data: (1) generated by The Cancer Genome Atlas managed by the NCI and NHGRI (accession: phs000178.v10.p8). Information about TCGA can be found at http://cancergenome.nih.gov, (2) generated by the Genotype-Tissue Expression Project (GTEx) managed by the NIH Common Fund and NHGRI (accession: phs000424.v7.p2), (3) generated by the Exome Sequencing Project, managed by NHLBI, (4) generated by the Alzheimer's Disease Sequencing Project (ADSP), managed by the NIA and NHGRI (accession: phs000572.v7.p4). We would like to thank the Hail team for developing tools essential for the large-scale computation in this work. We would like to thank the analysis team of the Broad's Rare Disease Group for their manual inspection of MNVs in rare disease cohorts. This work was funded by NIDDK U54 DK105566, NIGMS R01 GM104371, and NHGRI UM1 HG008900-01. Q. W. was supported by the Nakajima Foundation Scholarship. K.J.K. was supported by NIGMS F32 GM115208. A.O.D.L. was supported by NICHD K12 HD052896.; Genome Aggregation Database Prod T , Genome Aggregation Database Consor , Wang , Q , Pierce-Hoffman , E , Cummings , B B , MacArthur , D G , Groop , L , Färkkilä , M , Palotie , A , Remes , A M , Ripatti , S , Salomaa , V , Soininen , H , Suvisaari , J , Tuomi , T , Vartiainen , E & Wessman , M 2020 , ' Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes ' , Nature Communications , vol. 11 , no. 1 , 2539 . https://doi.org/10.1038/s41467-019-12438-5; ORCID: /0000-0002-0250-8559/work/87349990; ORCID: /0000-0002-8306-6202/work/87350194; ORCID: /0000-0002-2527-5874/work/97266432; http://hdl.handle.net/10138/325078; 03bf4b14-32bd-4b51-8ac6-2343a619e908; 000538031600001

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    Academic Journal

    المصدر: Philosophical Transactions: Biological Sciences, 2001 Jan . 356(1405), 41-46.

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    Academic Journal

    المصدر: Philosophical Transactions: Biological Sciences, 2001 Jan . 356(1405), 67-72.

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    Academic Journal
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    المساهمون: University of St Andrews. Institute of Behavioural and Neural Sciences, University of St Andrews. Biomedical Sciences Research Complex, University of St Andrews. School of Biology

    وصف الملف: application/pdf

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    Academic Journal

    المصدر: Martín-Pardillos , A , Tsaalbi-Shtylik , A , Chen , S , Lazare , S , van Os , R P , Dethmers-Ausema , A , Fakouri , N B , Bosshard , M , Aprigliano , R , van Loon , B , Salvatori , D C F , Hashimoto , K , Dingemanse-van der Spek , C , Moriya , M , Rasmussen , L J , de Haan , G , Raaijmakers , M H G P & de Wind , N 2017 , ' Genomic and functional integrity of the hematopoietic system requires tolerance of ....

    وصف الملف: application/pdf

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    المساهمون: Tampere University, Clinical Medicine, Department of Clinical Chemistry, Centre of Excellence in Complex Disease Genetics, HUS Abdominal Center, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, Department of Medicine, Clinicum, Gastroenterologian yksikkö, Helsinki University Hospital Area, Research Programs Unit, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Department of Public Health, Samuli Olli Ripatti / Principal Investigator, Complex Disease Genetics, Biostatistics Helsinki, Biosciences, Rosetrees Trust

    المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
    2020, ' Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes ', Nature Communications, vol. 11, no. 1, 2539 . https://doi.org/10.1038/s41467-019-12438-5
    Nature Communications

    وصف الملف: fulltext; application/pdf

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    Academic Journal
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    Dissertation/ Thesis
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    المصدر: International Journal of Molecular Sciences
    International Journal of Molecular Sciences, Vol 21, Iss 9484, p 9484 (2020)
    Volume 21
    Issue 24

    وصف الملف: application/pdf

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    المساهمون: Damage and Repair in Cancer Development and Cancer Treatment (DARE), Stem Cell Aging Leukemia and Lymphoma (SALL), Hematology

    المصدر: Blood, 130(13), 1523-1534. AMER SOC HEMATOLOGY
    Blood, 130(13), 1523-1534
    Blood, 130(13), 1523-1534. American Society of Hematology

    وصف الملف: application/pdf

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    Academic Journal
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