Výsledky vyhledávání - Partington, Michael 

Reply Autor Partington, Michael, Turner, Gillian

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Reply Autor Turner, Gillian, Partington, Michael W

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The Plasma Tyrosine Levels of Premature Babies Autor Mathews, John, Partington, Michael W.

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Introduction Autor Scriver, Charles R., Partington, Michael, Sass-Kortsak, A.

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Neurosurgery guidelines for the care of people with spina bifida Autor Blount, Jeffrey P., Bowman, Robin, Dias, Mark S., Hopson, Betsy, Partington, Michael D., Rocque, Brandon G.

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Expression of and correlational patterns among neuroinflammatory, neuropeptide, and neuroendocrine molecules from cerebrospinal fluid in cerebral palsy Autor Goracke-Postle, Cory J., Burkitt, Chantel C., Panoskaltsis-Mortari, Angela, Ehrhardt, Michael, Wilcox, George L., Graupman, Patrick, Partington, Michael, Symons, Frank J.

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Musculoskeletal Pain Outcomes Pre- and Post Intrathecal Baclofen Pump Implant in Children With Cerebral Palsy: A Prospective Cohort Study Autor Barney, Chantel C., Merbler, Alyssa M., Stansbury, Jean, Krach, Linda E., Partington, Michael, Graupman, Patrick, Kim, Peter D., Song, Debbie, Symons, Frank J.

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Treated hydrocephalus in individuals with myelomeningocele in the National Spina Bifida Patient Registry (NSBPR) Autor Kim, Irene, Hopson, Betsy D., Aban, Inmaculada, Rizk, Elias B., Dias, Mark S., Bowman, Robin, Ackerman, Laurie L., Partington, Michael, Castillo, Heidi, Castillo, Jonathan, Peterson, Paula R., Blount, Jeffrey P., Rocque, Brandon G.

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Decompression for Chiari malformation type II in individuals with myelomeningocele in the National Spina Bifida Patient Registry Autor Kim, Irene, Hopson, Betsy, Aban, Inmaculada, Rizk, Elias B., Dias, Mark S., Bowman, Robin, Ackerman, Laurie L., Partington, Michael D., Castillo, Heidi, Castillo, Jonathan, Peterson, Paula R., Blount, Jeffrey P., Rocque, Brandon G.

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Mutations in the ZNF41 Gene Are Associated with Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation Autor Shoichet, Sarah A., Hoffmann, Kirsten, Menzel, Corinna, Trautmann, Udo, Moser, Bettina, Hoeltzenbein, Maria, Echenne, Bernard, Partington, Michael, van Bokhoven, Hans, Moraine, Claude, Fryns, Jean-Pierre, Chelly, Jamel, Rott, Hans-Dieter, Ropers, Hans-Hilger, M. Kalscheuer, Vera

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Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes Autor Santos, Lane J. Jaeckle, Xing, Chao, Barnes, Robert B., Ades, Lesley C., Megarbane, Andre, Vidal, Christopher, Xuereb, Angela, Tarpey, Patrick S., Smith, Raffaella, Khazab, Mahmoud, Shoubridge, Cheryl, Partington, Michael, Futreal, Andrew, Stratton, Michael R., Gecz, Jozef, Zinn, Andrew R.

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Retinal Findings in Young Children With Increased Intracranial Pressure From Nontraumatic Causes Autor Shi, Angell, Kulkarni, Abhaya, Feldman, Kenneth W., Weiss, Avery, McCourt, Emily A., Schloff, Susan, Partington, Michael, Forbes, Brian, Geddie, Brooke E., Bierbrauer, Karin, Phillips, Paul H., Rogers, David L., Abed Alnabi, Waleed, Binenbaum, Gil, Levin, Alex V.

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CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes Autor Hackett, Anna, Tarpey, Patrick S, Licata, Andrea, Cox, James, Whibley, Annabel, Boyle, Jackie, Rogers, Carolyn, Grigg, John, Partington, Michael, Stevenson, Roger E, Tolmie, John, Yates, John RW, Turner, Gillian, Wilson, Meredith, Futreal, Andrew P, Corbett, Mark, Shaw, Marie, Gecz, Jozef, Raymond, F Lucy, Stratton, Michael R, Schwartz, Charles E, Abidi, Fatima E

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Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes Autor Hackett, Anna, Tarpey, Patrick S, Licata, Andrea, Cox, James, Whibley, Annabel, Boyle, Jackie, Rogers, Carolyn, Grigg, John, Partington, Michael, Stevenson, Roger E, Tolmie, John, Yates, John R W, Turner, Gillian, Wilson, Meredith, Futreal, Andrew P, Corbett, Mark, Shaw, Marie, Gecz, Jozef, Raymond, F Lucy, Stratton, Michael R, Schwartz, Charles E, Abidi, Fatima E

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Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental Retardation Autor Tarpey, Patrick, Parnau, Josep, Blow, Matthew, Woffendin, Hayley, Bignell, Graham, Cox, Charles, Cox, James, Davies, Helen, Edkins, Sarah, Holden, Simon, Korny, Angelique, Mallya, Uma, Moon, Jenny, O’Meara, Sarah, Parker, Adrian, Stephens, Philip, Stevens, Claire, Teague, Jon, Donnelly, Andrew, Mangelsdorf, Marie, Mulley, John, Partington, Michael, Turner, Gillian, Stevenson, Roger, Schwartz, Charles, Young, Ian, Easton, Douglas, Bobrow, Martin, Futreal, P. Andrew, Stratton, Michael R., Gecz, Jozef, Wooster, Richard, Raymond, F. Lucy

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Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation Autor Froyen, Guy, Corbett, Mark, Vandewalle, Joke, Jarvela, Irma, Lawrence, Owen, Meldrum, Cliff, Bauters, Marijke, Govaerts, Karen, Vandeleur, Lucianne, Van Esch, Hilde, 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, Whibley, Annabel, Raymond, F. Lucy, Stratton, Michael R., Fryns, Jean-Pierre, Scott, Rodney, Peippo, Maarit, Sipponen, Marjatta, Partington, Michael, Mowat, David, Field, Michael, Hackett, Anna, Marynen, Peter, Turner, Gillian, Gécz, Jozef

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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. 

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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 

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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 

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation Autor Tarpey, Patrick S, Smith, Raffaella, Pleasance, Erin, Whibley, Annabel, Edkins, Sarah, Hardy, Claire, O'Meara, Sarah, Latimer, Calli, Dicks, Ed, Menzies, Andrew, Stephens, Phil, Blow, Matt, Greenman, Chris, Xue, Yali, Tyler-Smith, Chris, Thompson, Deborah, Gray, Kristian, Andrews, Jenny, Barthorpe, Syd, Buck, Gemma, Cole, Jennifer, Dunmore, Rebecca, Jones, David, Maddison, Mark, Mironenko, Tatiana, Turner, Rachel, Turrell, Kelly, Varian, Jennifer, West, Sofie, Widaa, Sara, Wray, Paul, Teague, Jon, Butler, Adam, Jenkinson, Andrew, Jia, Mingming, Richardson, David, Shepherd, Rebecca, Wooster, Richard, Tejada, M Isabel, Martinez, Francisco, Carvill, Gemma, Goliath, Rene, de Brouwer, Arjan P M, van Bokhoven, Hans, Van Esch, Hilde, Chelly, Jamel, Raynaud, Martine, Ropers, Hans-Hilger, Abidi, Fatima E, Srivastava, Anand K, Cox, James, Luo, Ying, Mallya, Uma, Moon, Jenny, Parnau, Josef, Mohammed, Shehla, Tolmie, John L, Shoubridge, Cheryl, Corbett, Mark, Gardner, Alison, Haan, Eric, Rujirabanjerd, Sinitdhorn, Shaw, Marie, Vandeleur, Lucianne, Fullston, Tod, Easton, Douglas F, Boyle, Jackie, Partington, Michael, Hackett, Anna, Field, Michael, Skinner, Cindy, Stevenson, Roger E, Bobrow, Martin, Turner, Gillian, Schwartz, Charles E, Gecz, Jozef, Raymond, F Lucy, Futreal, P Andrew, Stratton, Michael R

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