检索结果 - Partington, Michael 

Reply 由 Partington, Michael, Turner, Gillian

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Reply 由 Turner, Gillian, Partington, Michael W

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

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

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Neurosurgery guidelines for the care of people with spina bifida 由 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 由 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 由 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) 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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... 由 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 由 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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