نتائج البحث - Simensen, Richard

Intellectual functioning in alpha‐mannosidosis حسب Cathey, Sara S., Sarasua, Sara M., Simensen, Richard, Pietris, Katie, Kimbrell, Gordon, Sillence, David, Wilson, Callum, Horowitz, Lucia

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Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin–Lowry syndrome حسب Kesler, Shelli R., Simensen, Richard J., Voeller, Kytja, Abidi, Fatima, Stevenson, Roger E., Schwartz, Charles E., Reiss, Allan L.

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Phenotype and Genotype in Mucolipidoses II and III alpha/beta: A Study of 61 Probands حسب Cathey, Sara S., Leroy, Jules G., Wood, Tim, Eaves, Karisa, Simensen, Richard J., Kudo, Mariko, Stevenson, Roger E., Friez, Michael J.

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Craniofacioskeletal Syndrome: An X-Linked Dominant Disorder With Early Lethality in Males حسب Stevenson, Roger E., Brasington, Cam K., Skinner, Cindy, Simensen, Richard J., Spence, J. Edward, Kesler, Shelli, Reiss, Allan L., Schwartz, Charles E.

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Evidence that SIZN1 is a Candidate X-Linked Mental Retardation Gene حسب Cho, Ginam, Bhat, Shambhu S, Gao, Jinsong, Collins, Julianne S, Rogers, R. Curtis, Simensen, Richard J, Schwartz, Charles E, Golden, Jeffrey A, Srivastava, Anand K

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

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Behavior of 10 patients with FG Syndrome (Opitz-Kaveggia Syndrome) and the p.R961W Mutation in the MED12 Gene حسب Graham, John M, Visootsak, Jeannie, Dykens, Elisabeth, Huddleston, Lillie, Clark, Robin D, Jones, Kenneth L, Moeschler, John B, Opitz, John M, Morford, Jackie, Simensen, Richard, Rogers, R. Curtis, Schwartz, Charles E, Friez, Michael J, Stevenson, Roger E

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Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene حسب Schwartz, Charles E. , May, Melanie M. , Carpenter, Nancy J. , Rogers, R. Curtis , Martin, Judith , Bialer, Martin G. , Ward, Jewell , Sanabria, Javier , Marsa, Silvana , Lewis, James A. , Echeverri, Roberto , Lubs, Herbert A. , Voeller, Kytja , Simensen, Richard J. , Stevenson, Roger E. 

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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene حسب Schwartz, Charles E, Tarpey, Patrick S, Lubs, Herbert A, Verloes, Alain, May, Melanie M, Risheg, Hiba, Friez, Michael J, Futreal, P Andrew, Edkins, Sarah, Teague, Jon, Briault, Sylvain, Skinner, Cindy, Bauer‐Carlin, Astrid, Simensen, Richard J, Joseph, Sumy M, Jones, Julie R, Gecz, Josef, Stratton, Michael R, Raymond, F Lucy, Stevenson, Roger E

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HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study حسب Friez, Michael J, Brooks, Susan Sklower, Stevenson, Roger E, Field, Michael, Basehore, Monica J, Adès, Lesley C, Sebold, Courtney, McGee, Stephen, Saxon, Samantha, Skinner, Cindy, Craig, Maria E, Murray, Lucy, Simensen, Richard J, Yap, Ying Yzu, Shaw, Marie A, Gardner, Alison, Corbett, Mark, Kumar, Raman, Bosshard, Matthias, van Loon, Barbara, Tarpey, Patrick S, Abidi, Fatima, Gecz, Jozef, Schwartz, Charles E

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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 حسب 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 UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation حسب 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

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