Výsledky vyhledávání - Tofts, Calli 

Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus Autor Raymond, F. Lucy, Tarpey, Patrick S., Edkins, Sarah, Tofts, Calli, O’Meara, Sarah, Teague, Jon, Butler, Adam, Stevens, Claire, Barthorpe, Syd, Buck, Gemma, Cole, Jennifer, Dicks, Ed, Gray, Kristian, Halliday, Kelly, Hills, Katy, Hinton, Jonathon, Jones, David, Menzies, Andrew, Perry, Janet, Raine, Keiran, Shepherd, Rebecca, Small, Alexandra, Varian, Jennifer, Widaa, Sara, Mallya, Uma, Moon, Jenny, Luo, Ying, Shaw, Marie, Boyle, Jackie, Kerr, Bronwyn, Turner, Gillian, Quarrell, Oliver, Cole, Trevor, Easton, Douglas F., Wooster, Richard, Bobrow, Martin, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Futreal, P. Andrew

Získat plný text Získat plný text

Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly Autor Field, Michael , Tarpey, Patrick S. , Smith, Raffaella , Edkins, Sarah , O’Meara, Sarah , Stevens, Claire , Tofts, Calli , Teague, Jon , Butler, Adam , Dicks, Ed , Barthorpe, Syd , Buck, Gemma , Cole, Jennifer , Gray, Kristian , Halliday, Kelly , Hills, Katy , Jenkinson, Andrew , Jones, David , Menzies, Andrew , Mironenko, Tatiana , Perry, Janet , Raine, Keiran , Richardson, David , Shepherd, Rebecca , Small, Alexandra , Varian, Jennifer , West, Sofie , Widaa, Sara , Mallya, Uma , Wooster, Richard , Moon, Jenny , Luo, Ying , Hughes, Helen , Shaw, Marie , Friend, Kathryn L. , Corbett, Mark , Turner, Gillian , Partington, Michael , Mulley, John , Bobrow, Martin , Schwartz, Charles , Stevenson, Roger , Gecz, Jozef , Stratton, Michael R. , Andrew Futreal, P. , Lucy Raymond, F. 

Získat plný text Získat plný text

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set Autor Ikediobi, Ogechi N., Davies, Helen, Bignell, Graham, Edkins, Sarah, Stevens, Claire, O’Meara, Sarah, Santarius, Thomas, Avis, Tim, Barthorpe, Syd, Brackenbury, Lisa, Buck, Gemma, Butler, Adam, Clements, Jody, Cole, Jennifer, Dicks, Ed, Forbes, Simon, Gray, Kristian, Halliday, Kelly, Harrison, Rachel, Hills, Katy, Hinton, Jonathan, Hunter, Chris, Jenkinson, Andy, Jones, David, Kosmidou, Vivienne, Lugg, Richard, Menzies, Andrew, Mironenko, Tatiana, Parker, Adrian, Perry, Janet, Raine, Keiran, Richardson, David, Shepherd, Rebecca, Small, Alex, Smith, Raffaella, Solomon, Helen, Stephens, Philip, Teague, Jon, Tofts, Calli, Varian, Jennifer, Webb, Tony, West, Sofie, Widaa, Sara, Yates, Andy, Reinhold, William, Weinstein, John N., Stratton, Michael R., Futreal, P. Andrew, Wooster, Richard

Získat plný text Získat plný text Získat plný text

Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, Cause X-Linked Mental Retardation Autor Tarpey, Patrick S. , Stevens, Claire , Teague, Jon , Edkins, Sarah , O’Meara, Sarah , Avis, Tim , Barthorpe, Syd , Buck, Gemma , Butler, Adam , Cole, Jennifer , Dicks, Ed , Gray, Kristian , Halliday, Kelly , Harrison, Rachel , Hills, Katy , Hinton, Jonathon , Jones, David , Menzies, Andrew , Mironenko, Tatiana , Perry, Janet , Raine, Keiran , Richardson, David , Shepherd, Rebecca , Small, Alexandra , Tofts, Calli , Varian, Jennifer , West, Sofie , Widaa, Sara , Yates, Andy , Catford, Rachael , Butler, Julia , Mallya, Uma , Moon, Jenny , Luo, Ying , Dorkins, Huw , Thompson, Deborah , Easton, Douglas F. , Wooster, Richard , Bobrow, Martin , Carpenter, Nancy , Simensen, Richard J. , Schwartz, Charles E. , Stevenson, Roger E. , Turner, Gillian , Partington, Michael , Gecz, Jozef , Stratton, Michael R. , Futreal, P. Andrew , Raymond, F. Lucy 

Získat plný text Získat plný text

Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly... Autor Tarpey, Patrick S. , Raymond, F. Lucy , O’Meara, Sarah , Edkins, Sarah , Teague, Jon , Butler, Adam , Dicks, Ed , Stevens, Claire , Tofts, Calli , Avis, Tim , Barthorpe, Syd , Buck, Gemma , Cole, Jennifer , Gray, Kristian , Halliday, Kelly , Harrison, Rachel , Hills, Katy , Jenkinson, Andrew , Jones, David , Menzies, Andrew , Mironenko, Tatiana , Perry, Janet , Raine, Keiran , Richardson, David , Shepherd, Rebecca , Small, Alexandra , Varian, Jennifer , West, Sofie , Widaa, Sara , Mallya, Uma , Moon, Jenny , Luo, Ying , Holder, Susan , Smithson, Sarah F. , Hurst, Jane A. , Clayton-Smith, Jill , Kerr, Bronwyn , Boyle, Jackie , Shaw, Marie , Vandeleur, Lucianne , Rodriguez, Jayson , Slaugh, Rachel , Easton, Douglas F. , Wooster, Richard , Bobrow, Martin , Srivastava, Anand K. , Stevenson, Roger E. , Schwartz, Charles E. , Turner, Gillian , Gecz, Jozef , Futreal, P. Andrew , Stratton, Michael R. , Partington, Michael 

Získat plný text Získat plný text

A Hypermutation Phenotype and Somatic MSH6 Mutations in Recurrent Human Malignant Gliomas after Alkylator Chemotherapy Autor Hunter, Chris, Smith, Raffaella, Cahill, Daniel P., Stephens, Philip, Stevens, Claire, Teague, Jon, Greenman, Chris, Edkins, Sarah, Bignell, Graham, Davies, Helen, O’Meara, Sarah, Parker, Adrian, Avis, Tim, Barthorpe, Syd, Brackenbury, Lisa, Buck, Gemma, Butler, Adam, Clements, Jody, Cole, Jennifer, Dicks, Ed, Forbes, Simon, Gorton, Matthew, Gray, Kristian, Halliday, Kelly, Harrison, Rachel, Hills, Katy, Hinton, Jonathon, Jenkinson, Andy, Jones, David, Kosmidou, Vivienne, Laman, Ross, Lugg, Richard, Menzies, Andrew, Perry, Janet, Petty, Robert, Raine, Keiran, Richardson, David, Shepherd, Rebecca, Small, Alexandra, Solomon, Helen, Tofts, Calli, Varian, Jennifer, West, Sofie, Widaa, Sara, Yates, Andy, Easton, Douglas F., Riggins, Gregory, Roy, Jennifer E., Levine, Kymberly K., Mueller, Wolf, Batchelor, Tracy T., Louis, David N., Stratton, Michael R., Andrew Futreal, P., Wooster, Richard

Získat plný text Získat plný text Získat plný text

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation Autor Tarpey, Patrick S, Raymond, F Lucy, Nguyen, Lam S, Rodriguez, Jayson, Hackett, Anna, Vandeleur, Lucianne, Smith, Raffaella, Shoubridge, Cheryl, Edkins, Sarah, Stevens, Claire, O'Meara, Sarah, Tofts, Calli, Barthorpe, Syd, Buck, Gemma, Cole, Jennifer, Halliday, Kelly, Hills, Katy, Jones, David, Mironenko, Tatiana, Perry, Janet, Varian, Jennifer, West, Sofie, Widaa, Sara, Teague, John, Dicks, Ed, Butler, Adam, Menzies, Andrew, Richardson, David, Jenkinson, Andrew, Shepherd, Rebecca, Raine, Keiran, Moon, Jenny, Luo, Yin, Parnau, Josep, Bhat, Shambhu S, Gardner, Alison, Corbett, Mark, Brooks, Doug, Thomas, Paul, Parkinson-Lawrence, Emma, Porteous, Mary E, Warner, John P, Sanderson, Tracy, Pearson, Pauline, Simensen, Richard J, Skinner, Cindy, Hoganson, George, Superneau, Duane, Wooster, Richard, Bobrow, Martin, Turner, Gillian, Stevenson, Roger E, Schwartz, Charles E, Futreal, P Andrew, Srivastava, Anand K, Stratton, Michael R, Gécz, Jozef

Získat plný text Získat plný text Získat plný text

Sequence Analysis of the Protein Kinase Gene Family in Human Testicular Germ-Cell Tumors of Adolescents and Adults Autor Bignell, Graham, Smith, Raffaella, Hunter, Chris, Stephens, Philip, Davies, Helen, Greenman, Chris, Teague, Jon, Butler, Adam, Edkins, Sarah, Stevens, Claire, O’Meara, Sarah, Parker, Adrian, Avis, Tim, Barthorpe, Syd, Brackenbury, Lisa, Buck, Gemma, Clements, Jody, Cole, Jennifer, Dicks, Ed, Edwards, Ken, Forbes, Simon, Gorton, Matthew, Gray, Kristian, Halliday, Kelly, Harrison, Rachel, Hills, Katy, Hinton, Jonathon, Jones, David, Kosmidou, Vivienne, Laman, Ross, Lugg, Richard, Menzies, Andrew, Perry, Janet, Petty, Robert, Raine, Keiran, Shepherd, Rebecca, Small, Alexandra, Solomon, Helen, Stephens, Yvonne, Tofts, Calli, Varian, Jennifer, Webb, Anthony, West, Sofie, Widaa, Sara, Yates, Andy, Gillis, Ad J. M., Stoop, Hans J., van Gurp, Ruud J. H. L. M., Oosterhuis, J. Wolter, Looijenga, Leendert H. J., Futreal, P. Andrew, Wooster, Richard, Stratton, Michael R.

Získat plný text Získat plný text Získat plný text

Genomic anatomy of the Tyrp1 (brown) deletion complex Autor Smyth, Ian M., Wilming, Laurens, Lee, Angela W., Taylor, Martin S., Gautier, Phillipe, Barlow, Karen, Wallis, Justine, Martin, Sancha, Glithero, Rebecca, Phillimore, Ben, Pelan, Sarah, Andrew, Rob, Holt, Karen, Taylor, Ruth, McLaren, Stuart, Burton, John, Bailey, Jonathon, Sims, Sarah, Squares, Jan, Plumb, Bob, Joy, Ann, Gibson, Richard, Gilbert, James, Hart, Elizabeth, Laird, Gavin, Loveland, Jane, Mudge, Jonathan, Steward, Charlie, Swarbreck, David, Harrow, Jennifer, North, Philip, Leaves, Nicholas, Greystrong, John, Coppola, Maria, Manjunath, Shilpa, Campbell, Mark, Smith, Mark, Strachan, Gregory, Tofts, Calli, Boal, Esther, Cobley, Victoria, Hunter, Giselle, Kimberley, Christopher, Thomas, Daniel, Cave-Berry, Lee, Weston, Paul, Botcherby, Marc R. M., White, Sharon, Edgar, Ruth, Cross, Sally H., Irvani, Marjan, Hummerich, Holger, Simpson, Eleanor H., Johnson, Dabney, Hunsicker, Patricia R., Little, Peter F. R., Hubbard, Tim, Campbell, R. Duncan, Rogers, Jane, Jackson, Ian J.

Získat plný text Získat plný text Získat plný text

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment Autor Dibbens, Leanne M, Tarpey, Patrick S, Hynes, Kim, Bayly, Marta A, Scheffer, Ingrid E, Smith, Raffaella, Bomar, Jamee, Sutton, Edwina, Vandeleur, Lucianne, Shoubridge, Cheryl, Edkins, Sarah, Turner, Samantha J, Stevens, Claire, O’Meara, Sarah, Tofts, Calli, Barthorpe, Syd, Buck, Gemma, Cole, Jennifer, Halliday, Kelly, Jones, David, Lee, Rebecca, Madison, Mark, Mironenko, Tatiana, Varian, Jennifer, West, Sofie, Widaa, Sara, Wray, Paul, Teague, John, Dicks, Ed, Butler, Adam, Menzies, Andrew, Jenkinson, Andrew, Shepherd, Rebecca, Gusella, James F, Afawi, Zaid, Mazarib, Aziz, Neufeld, Miriam Y, Kivity, Sara, Lev, Dorit, Lerman-Sagie, Tally, Korczyn, Amos D, Derry, Christopher P, Sutherland, Grant R, Friend, Kathryn, Shaw, Marie, Corbett, Mark, Kim, Hyung-Goo, Geschwind, Daniel H, Thomas, Paul, Haan, Eric, Ryan, Stephen, McKee, Shane, Berkovic, Samuel F, Futreal, P Andrew, Stratton, Michael R, Mulley, John C, Gécz, Jozef

Získat plný text Získat plný text Získat plný text

Patterns of somatic mutation in human cancer genomes Autor Greenman, Christopher, Stephens, Philip, Smith, Raffaella, Dalgliesh, Gillian L., Hunter, Christopher, Bignell, Graham, Davies, Helen, Teague, Jon, Butler, Adam, Stevens, Claire, Edkins, Sarah, O'Meara, Sarah, Vastrik, Imre, Schmidt, Esther E., Avis, Tim, Barthorpe, Syd, Bhamra, Gurpreet, Buck, Gemma, Choudhury, Bhudipa, Clements, Jody, Cole, Jennifer, Dicks, Ed, Forbes, Simon, Gray, Kris, Halliday, Kelly, Harrison, Rachel, Hills, Katy, Hinton, Jon, Jenkinson, Andy, Jones, David, Menzies, Andy, Mironenko, Tatiana, Perry, Janet, Raine, Keiran, Richardson, Dave, Shepherd, Rebecca, Small, Alexandra, Tofts, Calli, Varian, Jennifer, Webb, Tony, West, Sofie, Widaa, Sara, Yates, Andy, Cahill, Daniel P., Louis, David N., Goldstraw, Peter, Nicholson, Andrew G., Brasseur, Francis, Looijenga, Leendert, Weber, Barbara L., Chiew, Yoke-Eng, deFazio, Anna, Greaves, Mel F., Green, Anthony R., Campbell, Peter, Birney, Ewan, Easton, Douglas F., Chenevix-Trench, Georgia, Tan, Min-Han, Khoo, Sok Kean, Teh, Bin Tean, Yuen, Siu Tsan, Leung, Suet Yi, Wooster, Richard, Futreal, P. Andrew, Stratton, Michael R.

Získat plný text Získat plný text Získat plný text