A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
- Tarpey, Patrick S., Smith, Raffaella, Stephens, Phil, Blow, Matt, Greenman, Chris, Xue, Yali, Tyler-Smith, Chris, Thompson, Deborah, Gray, Kristian, Andrews, Jenny, Barthorpe, Syd, Buck, Gemma, Pleasance, Erin, Hackett, Anna, Whibley, Annabel, Edkins, Sarah, Hardy, Claire, O'Meara, Sarah, Latimer, Calli, Dicks, Ed, Menzies, Andrew
- Creator: Tarpey, Patrick S. , Smith, Raffaella , Stephens, Phil , Blow, Matt , Greenman, Chris , Xue, Yali , Tyler-Smith, Chris , Thompson, Deborah , Gray, Kristian , Andrews, Jenny , Barthorpe, Syd , Buck, Gemma , Pleasance, Erin , Hackett, Anna , Whibley, Annabel , Edkins, Sarah , Hardy, Claire , O'Meara, Sarah , Latimer, Calli , Dicks, Ed , Menzies, Andrew
- Resource Type: journal article
- Date: 2009
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
- Hackett, Anna, Tarpey, Patrick S., Tolmie, John, Yates, John R. W., Turner, Gillian, WIlson, Meredith, Futreal, Andrew P., Corbett, Mark, Shaw, Marie, Gecz, Jozef, Raymond, F. Lucy, Stratton, Micahel R., Licata, Andrea, Schwartz, Charles E., Abidi, Fatima E., Cox, James, Whibley, Annabel, Boyle, Jackie, Rogers, Carolyn, Grigg, John, Partington, Michael, Stevenson, Roger E.
- Creator: Hackett, Anna , Tarpey, Patrick S. , Tolmie, John , Yates, John R. W. , Turner, Gillian , WIlson, Meredith , Futreal, Andrew P. , Corbett, Mark , Shaw, Marie , Gecz, Jozef , Raymond, F. Lucy , Stratton, Micahel R. , Licata, Andrea , Schwartz, Charles E. , Abidi, Fatima E. , Cox, James , Whibley, Annabel , Boyle, Jackie , Rogers, Carolyn , Grigg, John , Partington, Michael , Stevenson, Roger E.
- Resource Type: journal article
- Date: 2010
- Rujirabanjerd, Sinitdhorn, Nelson, John, Futreal, P. Andrew, Stratton, Michael R., Gecz, Jozef, Tarpey, Patrick S., Hackett, Anna, Edkins, Sarah, Raymond, F. Lucy, Schwartz, Charles E., Turner, Gillian, Iwase, Shigeki, Shi, Yang
- Creator: Rujirabanjerd, Sinitdhorn , Nelson, John , Futreal, P. Andrew , Stratton, Michael R. , Gecz, Jozef , Tarpey, Patrick S. , Hackett, Anna , Edkins, Sarah , Raymond, F. Lucy , Schwartz, Charles E. , Turner, Gillian , Iwase, Shigeki , Shi, Yang
- Resource Type: journal article
- Date: 2010
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation
- Molinari, Florence, Foulquier, François, Matthijs, Gert, Gecz, Jozef, Munnich, Arnold, Colleaux, Laurence, Tarpey, Patrick S., Morelle, Willy, Boissel, Sarah, Teague, Jon, Edkins, Sarah, Futreal, P. Andrew, Stratton, Michael R., Turner, Gillian
- Creator: Molinari, Florence , Foulquier, François , Matthijs, Gert , Gecz, Jozef , Munnich, Arnold , Colleaux, Laurence , Tarpey, Patrick S. , Morelle, Willy , Boissel, Sarah , Teague, Jon , Edkins, Sarah , Futreal, P. Andrew , Stratton, Michael R. , Turner, Gillian
- Resource Type: journal article
- Date: 2008
- Froyen, Guy, Corbett, Mark, Chelly, Jamel, Sanlaville, Damien, van Bokhoven, Hans, Ropers, Hans-Hilger, Laumonnier, Frederic, Ranieri, Enzo, Schwartz, Charles E., Abidi, Fatima, Tarpey, Patrick S., Futreal, P. Andrew, Vandewalle, Joke, Whibley, Annabel, Raymond, F. Lucy, Stratton, Michael R., Fryns, Jean-Pierre, Scott, Rodney, Peippo, Maarit, Sipponen, Marjatta, Partington, Michael, Mowat, David, Field, Michael, Jarvela, Irma, Hackett, Anna, Marynen, Peter, Turner, Gillian, Gécz, Jozef, Lawrence, Owen, Meldrum, Cliff, Bauters, Marijke, Govaerts, Karen, Vandeleur, Lucianne, Van Esch, Hilde
- Creator: Froyen, Guy , Corbett, Mark , Chelly, Jamel , Sanlaville, Damien , van Bokhoven, Hans , Ropers, Hans-Hilger , Laumonnier, Frederic , Ranieri, Enzo , Schwartz, Charles E. , Abidi, Fatima , Tarpey, Patrick S. , Futreal, P. Andrew , Vandewalle, Joke , Whibley, Annabel , Raymond, F. Lucy , Stratton, Michael R. , Fryns, Jean-Pierre , Scott, Rodney , Peippo, Maarit , Sipponen, Marjatta , Partington, Michael , Mowat, David , Field, Michael , Jarvela, Irma , Hackett, Anna , Marynen, Peter , Turner, Gillian , Gécz, Jozef , Lawrence, Owen , Meldrum, Cliff , Bauters, Marijke , Govaerts, Karen , Vandeleur, Lucianne , Van Esch, Hilde
- Resource Type: journal article
- Date: 2008
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