檢索結果 - Patrick Tarpey

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  1. 1
    What is next generation sequencing?

    What is next generation sequencing? 由 Sam Behjati, Patrick Tarpey

    出版 2013
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  2. 2
    The genetics of mental retardation

    The genetics of mental retardation 由 F. Lucy Raymond, Patrick Tarpey

    出版 2006
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  3. 3
    IgM associated primary diffuse mesangial proliferative glomerulonephritis.

    IgM associated primary diffuse mesangial proliferative glomerulonephritis. 由 W Lawler, George E. Williams, Patrick Tarpey, N P Mallick

    出版 1980
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    Artigo
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  4. 4
    cgpPindel: Identifying Somatically Acquired Insertion and Deletion Events from Paired End Sequencing

    cgpPindel: Identifying Somatically Acquired Insertion and Deletion Events from Paired End Sequencing 由 Keiran Raine, Jonathan Hinton, Adam P. Butler, Jon W. Teague, Helen Davies, Patrick Tarpey, Serena Nik‐Zainal, Peter J. Campbell

    出版 2015
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    Artigo
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  5. 5
    cgpCaVEManWrapper: Simple Execution of CaVEMan in Order to Detect Somatic Single Nucleotide Variants in NGS Data

    cgpCaVEManWrapper: Simple Execution of CaVEMan in Order to Detect Somatic Single Nucleotide Variants in NGS Data 由 David Jones, Keiran Raine, Helen Davies, Patrick Tarpey, Adam P. Butler, Jon W. Teague, Serena Nik‐Zainal, Peter J. Campbell

    出版 2016
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  6. 6
    Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer

    Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer 由 Katie Snape, Elise Ruark, Patrick Tarpey, Anthony Renwick, Clare Turnbull, Sheila Seal, Anne R. Murray, Sandra Hanks, Jenny Douglas, Michael R. Stratton, Nazneen Rahman

    出版 2012
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  7. 7
    ascatNgs: Identifying Somatically Acquired Copy‐Number Alterations from Whole‐Genome Sequencing Data

    ascatNgs: Identifying Somatically Acquired Copy‐Number Alterations from Whole‐Genome Sequencing Data 由 Keiran Raine, Peter Van Loo, David C. Wedge, David Jones, Andrew Menzies, Adam P. Butler, Jon W. Teague, Patrick Tarpey, Serena Nik‐Zainal, Peter J. Campbell

    出版 2016
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  8. 8
    Mutations in the <i>RSK2(RPS6KA3)</i> gene cause Coffin–Lowry syndrome and nonsyndromic X‐linked mental retardation

    Mutations in the <i>RSK2(RPS6KA3)</i> gene cause Coffin–Lowry syndrome and nonsyndromic X‐linked mental retardation 由 Michael Field, Patrick Tarpey, J Boyle, Sarah Edkins, Judith Goodship, Ying Luo, Jennifer A. Moon, Jon W. Teague, MR Stratton, PA Futreal, Richard Wooster, FL Raymond, Gillian Turner

    出版 2006
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  9. 9
    An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity

    An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity 由 Kyoko Takano, Dan Liu, Patrick Tarpey, Esther M. Gallant, Alexander Lam, Shawn Witham, Emil Alexov, Alka Chaubey, Roger E. Stevenson, Charles E. Schwartz, Philip G. Board, Angela F. Dulhunty

    出版 2012
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  10. 10
    Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

    Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation 由 Sinitdhorn Rujirabanjerd, John W. Nelson, Patrick Tarpey, Anna Hackett, Sarah Edkins, F. Lucy Raymond, Charles E. Schwartz, Gillian Turner, Shigeki Iwase, Yang Shi, P. Andrew Futreal, Michael R. Stratton, Jozef Gécz

    出版 2009
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  11. 11
    Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

    Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation 由 Florence Molinari, François Foulquier, Patrick Tarpey, Willy Morelle, Sarah Boissel, Jon W. Teague, Sarah Edkins, P. Andrew Futreal, Michael R. Stratton, Gillian Turner, Gert Matthijs, Jozef Gécz, Arnold Münnich, Laurence Colleaux

    出版 2008
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  12. 12
    Erratum: Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

    Erratum: Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation 由 Sinitdhorn Rujirabanjerd, John W. Nelson, Patrick Tarpey, Anna Hackett, Sarah Edkins, F. Lucy Raymond, Charles E. Schwartz, Gillian Turner, Shigeki Iwase, Yang Shi, P. Andrew Futreal, Michael R. Stratton, Jozef Gécz

    出版 2012
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  13. 13
    Natural history of Christianson syndrome

    Natural history of Christianson syndrome 由 Richard J. Schroer, Kenton R. Holden, Patrick Tarpey, Maria Giselle Matheus, David A. Griesemer, Michael J. Friez, Jane Fan, Richard J. Simensen, Petter Strømme, Roger E. Stevenson, Michael R. Stratton, Charles E. Schwartz

    出版 2010
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  14. 14
    Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo‐adjuvant chemotherapy

    Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo‐adjuvant chemotherapy 由 Maria Fernanda Amary, Hongtao Ye, Fitim Berisha, Bhavisha Khatri, Georgina Forbes, Katie Lehovsky, Anna Maria Frezza, Sam Behjati, Patrick Tarpey, Nischalan Pillay, Peter J. Campbell, Roberto Tirabosco, Nadège Presneau, Sandra J. Strauss, Adrienne M. Flanagan

    出版 2014
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  15. 15
    Diagnostic value of <i>H3F3A</i> mutations in giant cell tumour of bone compared to osteoclast‐rich mimics

    Diagnostic value of <i>H3F3A</i> mutations in giant cell tumour of bone compared to osteoclast‐rich mimics 由 Nadège Presneau, Daniel Baumhoer, Sam Behjati, Nischalan Pillay, Patrick Tarpey, Peter J. Campbell, Gernot Jundt, Rifat Hamoudi, David C. Wedge, Peter Van Loo, A. Bassim Hassan, Bhavisha Khatri, Hongtao Ye, Roberto Tirabosco, Fernanda Amary, Adrienne M. Flanagan

    出版 2015
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  16. 16
    Circulating tumor DNA in patients with colorectal adenomas: assessment of detectability and genetic heterogeneity

    Circulating tumor DNA in patients with colorectal adenomas: assessment of detectability and genetic heterogeneity 由 Ni Ni Moe Myint, Ajay Verma, Daniel Fernández-García, Panchali Sarmah, Patrick Tarpey, Saif Sattar Al-Aqbi, Hong Cai, Ricky M. Trigg, Kevin West, Lynne Howells, Anne Thomas, Karen Brown, David S. Guttery, Baljit Singh, Howard Pringle, Ultan McDermott, Jacqui Shaw, Alessandro Rufini

    出版 2018
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  17. 17
    The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus

    The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus 由 Mervyn G. Thomas, Moira Crosier, Susan Lindsay, Anil Kumar, Shery Thomas, Masasuke Araki, Chris J. Talbot, Russell McLean, M. Surendran, Kent D. Taylor, Bart P. Leroy, A. T. Moore, David G. Hunter, Richard W. Hertle, Patrick Tarpey, A. Langmann, S. Lindner, Martina Brandner, Irène Gottlob

    出版 2011
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  18. 18
    The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

    The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene 由 C E Schwartz, Patrick Tarpey, Herbert A. Lubs, Alain Verloès, Melanie May, Hiba Risheg, Michael J. Friez, PA Futreal, Sarah Edkins, J. Teague, Sylvain Briault, Cindy Skinner, Astrid Bauer‐Carlin, R J Simensen, Sumy Joseph, Julie R. Jones, Jozef Gécz, Michael R. Stratton, F. Lucy Raymond, R.E. Stevenson

    出版 2007
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    Carta
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  19. 19
    Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

    Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans 由 Ye Wu, Amy Arai, Gavin Rumbaugh, Anand K. Srivastava, Gillian Turner, Takashi Hayashi, Érika Suzuki, Yuwu Jiang, Lilei Zhang, Jayson Rodriguez, Jackie Boyle, Patrick Tarpey, F. Lucy Raymond, Joke Nevelsteen, Guy Froyen, Mike Stratton, Andy Futreal, Jozef Gécz, Roger E. Stevenson, Charles E. Schwartz, David Valle, Richard L. Huganir, Tao Wang

    出版 2007
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  20. 20
    Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

    Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability 由 Cheryl Shoubridge, Patrick Tarpey, Fatima Abidi, Sarah Ramsden, Sinitdhorn Rujirabanjerd, Jessica A. Murphy, Jackie Boyle, Marie Shaw, Alison Gardner, Anné Proos, Helen Puusepp, F. Lucy Raymond, Charles E. Schwartz, Roger E. Stevenson, G Turner, Michael Field, Randall S. Walikonis, Victoria L. Harvey, Anna Hackett, P. Andrew Futreal, Michael R. Stratton, Jozef Gécz

    出版 2010
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