Hasil Pencarian - David N Cooper

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  1. 1
    X-CAP improves pathogenicity prediction of stopgain variants

    X-CAP improves pathogenicity prediction of stopgain variants oleh Ruchir Rastogi, Peter D. Stenson, David N. Cooper, Gill Bejerano

    Diterbitkan 2022-07-01
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  2. 2
    Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense.

    Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense. oleh Sabine Siegert, Andreas Wolf, David N Cooper, Michael Krawczak, Michael Nothnagel

    Diterbitkan 2015-01-01
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  3. 3
    The NF1 somatic mutational landscape in sporadic human cancers

    The NF1 somatic mutational landscape in sporadic human cancers oleh Charlotte Philpott, Hannah Tovell, Ian M. Frayling, David N. Cooper, Meena Upadhyaya

    Diterbitkan 2017-06-01
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  4. 4
    A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

    A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young Fren... oleh Emmanuelle Masson, Jian-Min Chen, Marie-Pierre Audrézet, David N Cooper, Claude Férec

    Diterbitkan 2013-01-01
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  5. 5
    Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation.

    Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation. oleh Stefano Regis, Fabio Corsolini, Serena Grossi, Barbara Tappino, David N Cooper, Mirella Filocamo

    Diterbitkan 2013-01-01
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  6. 6
    Prioritization of schizophrenia risk genes from GWAS results by integrating multi-omics data

    Prioritization of schizophrenia risk genes from GWAS results by integrating multi-omics data oleh Dan He, Cong Fan, Mengling Qi, Yuedong Yang, David N. Cooper, Huiying Zhao

    Diterbitkan 2021-03-01
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  7. 7
    Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization

    Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization oleh Siying Lin, Haoyang Zhang, Mengling Qi, David N. Cooper, Yuedong Yang, Yuanhao Yang, Huiying Zhao

    Diterbitkan 2023-10-01
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  8. 8
    Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East Asians

    Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East Asians oleh Xuehao Xiu, Haoyang Zhang, Angli Xue, David N. Cooper, Li Yan, Yuedong Yang, Yuanhao Yang, Huiying Zhao

    Diterbitkan 2022-08-01
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  9. 9
    Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease

    Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease oleh Mónica Lopes-Marques, Matthew Mort, João Carneiro, António Azevedo, Andreia P. Amaro, David N. Cooper, Luísa Azevedo

    Diterbitkan 2024-02-01
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  10. 10
    The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity

    The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity oleh Meltem Ece Kars, Yiming Wu, Peter D. Stenson, David N. Cooper, Johan Burisch, Inga Peter, Yuval Itan

    Diterbitkan 2024-05-01
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  11. 11
    An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome

    An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome oleh Michael Ferlaino, Mark F. Rogers, Hashem A. Shihab, Matthew Mort, David N. Cooper, Tom R. Gaunt, Colin Campbell

    Diterbitkan 2017-10-01
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  12. 12
    Deciphering next-generation pharmacogenomics: an information technology perspective

    Deciphering next-generation pharmacogenomics: an information technology perspective oleh George Potamias, Kleanthi Lakiotaki, Theodora Katsila, Ming Ta Michael Lee, Stavros Topouzis, David N. Cooper, George P. Patrinos

    Diterbitkan 2014-01-01
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  13. 13
    Application of Economic Evaluation to Assess Feasibility for Reimbursement of Genomic Testing as Part of Personalized Medicine Interventions

    Application of Economic Evaluation to Assess Feasibility for Reimbursement of Genomic Testing as Part of Personalized Medicine Interventions oleh Stavros Simeonidis, Stefania Koutsilieri, Athanassios Vozikis, David N. Cooper, Christina Mitropoulou, George P. Patrinos, George P. Patrinos, George P. Patrinos

    Diterbitkan 2019-08-01
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  14. 14
    In silico prioritization and further functional characterization of SPINK1 intronic variants

    In silico prioritization and further functional characterization of SPINK1 intronic variants oleh Wen-Bin Zou, Hao Wu, Arnaud Boulling, David N. Cooper, Zhao-Shen Li, Zhuan Liao, Jian-Min Chen, Claude Férec

    Diterbitkan 2017-05-01
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  15. 15
    The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease.

    The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease. oleh Jose Lugo-Martinez, Vikas Pejaver, Kymberleigh A Pagel, Shantanu Jain, Matthew Mort, David N Cooper, Sean D Mooney, Predrag Radivojac

    Diterbitkan 2016-08-01
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  16. 16
    Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set

    Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set oleh David Stein, Meltem Ece Kars, Yiming Wu, Çiğdem Sevim Bayrak, Peter D. Stenson, David N. Cooper, Avner Schlessinger, Yuval Itan

    Diterbitkan 2023-11-01
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  17. 17
    The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function

    The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function oleh Yuepeng Hu, Guofu Zhang, Qi Yang, Na Pu, Kaiwei Li, Baiqiang Li, David N. Cooper, Zhihui Tong, Weiqin Li, Jian-Min Chen

    Diterbitkan 2023-08-01
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  18. 18
    The sequencing and interpretation of the genome obtained from a Serbian individual.

    The sequencing and interpretation of the genome obtained from a Serbian individual. oleh Wazim Mohammed Ismail, Kymberleigh A Pagel, Vikas Pejaver, Simo V Zhang, Sofia Casasa, Matthew Mort, David N Cooper, Matthew W Hahn, Predrag Radivojac

    Diterbitkan 2018-01-01
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  19. 19
    Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.

    Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome. oleh Kymberleigh A Pagel, Danny Antaki, AoJie Lian, Matthew Mort, David N Cooper, Jonathan Sebat, Lilia M Iakoucheva, Sean D Mooney, Predrag Radivojac

    Diterbitkan 2019-06-01
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  20. 20
    Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses

    Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses oleh Ye Wang, Caixia Zhu, Liu Du, Qiaoer Li, Mei-Fang Lin, Claude Férec, Claude Férec, David N. Cooper, Jian-Min Chen, Yi Zhou

    Diterbitkan 2019-09-01
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