检索结果 - Turner, Gillian 

Fragile X Syndrome: Diagnosis, Treatment and Research 由 Turner, Gillian

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Screening for cervical cancer 由 Turner, Gillian

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Members' Column 由 Turner, Gillian

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Best Foot Forward 由 Turner, Gillian F

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X-linked mental retardation 由 Turner, Gillian, Turner, Brian

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Reply 由 Partington, Michael, Turner, Gillian

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Reply 由 Turner, Gillian, Partington, Michael W

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Management of Pregnancy Complicated by Hypertrophic Obstructive Cardiomyopathy 由 Turner, Gillian M., Oakley, Celia M., Dixon, H. G.

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Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region 由 Ronan, Anne, Fagan, Kerry, Christie, Louise, Conroy, Jeffrey, Nowak, Norma J, Turner, Gillian

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Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region 由 Ronan, Anne, Fagan, Kerry, Christie, Louise, Conroy, Jeffrey, Nowak, Norma J, Turner, Gillian

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Should isolated morbid obesity influence the decision to operate in hip and knee arthroplasty? 由 Crookes, Peter F., Cassidy, Roslyn S., Machowicz, Aleksander, Hill, Janet C., McCaffrey, John, Turner, Gillian, Beverland, David

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Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks 由 Kerzendorfer, Claudia, Whibley, Annabel, Carpenter, Gillian, Outwin, Emily, Chiang, Shih-Chieh, Turner, Gillian, Schwartz, Charles, El-Khamisy, Sherif, Raymond, F. Lucy, O'Driscoll, Mark

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A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability 由 Kumar, Raman, Ha, Thuong, Pham, Duyen, Shaw, Marie, Mangelsdorf, Marie, Friend, Kathryn L, Hobson, Lynne, Turner, Gillian, Boyle, Jackie, Field, Michael, Hackett, Anna, Corbett, Mark, Gecz, Jozef

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Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation 由 Molinari, Florence, Foulquier, François, Tarpey, Patrick S., Morelle, Willy, Boissel, Sarah, Teague, Jon, Edkins, Sarah, Futreal, P. Andrew, Stratton, Michael R., Turner, Gillian, Matthijs, Gert, Gecz, Jozef, Munnich, Arnold, Colleaux, Laurence

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Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation 由 Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang, Futreal, P Andrew, Stratton, Michael R, Gecz, Jozef

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Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation 由 Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang, Futreal, P Andrew, Stratton, Michael R, Gecz, Jozef

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Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy 由 Ewans, Lisa J, Field, Michael, Zhu, Ying, Turner, Gillian, Leffler, Melanie, Dinger, Marcel E, Cowley, Mark J, Buckley, Michael F, Scheffer, Ingrid E, Jackson, Matilda R, Roscioli, Tony, Shoubridge, Cheryl

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General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation 由 Vries, Bert B A de, Robinson, Hazel, Stolte-Dijkstra, Irene, Gi, Cecil V Tjon Pian, Dijkstra, Piet F, Doorn, Jaap van, Halley, Dicky J J, Oostra, Ben A, Turner, Gillian, Niermeijer, Martinus F

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Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation 由 Jensen, Lars Riff, Amende, Marion, Gurok, Ulf, Moser, Bettina, Gimmel, Verena, Tzschach, Andreas, Janecke, Andreas R., Tariverdian, Gholamali, Chelly, Jamel, Fryns, Jean-Pierre, Van Esch, Hilde, Kleefstra, Tjitske, Hamel, Ben, Moraine, Claude, Gécz, Jozef, Turner, Gillian, Reinhardt, Richard, Kalscheuer, Vera M., Ropers, Hans-Hilger, Lenzner, Steffen

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Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans 由 Wu, Ye, Arai, Amy C., Rumbaugh, Gavin, Srivastava, Anand K., Turner, Gillian, Hayashi, Takashi, Suzuki, Erika, Jiang, Yuwu, Zhang, Lilei, Rodriguez, Jayson, Boyle, Jackie, Tarpey, Patrick, Raymond, F. Lucy, Nevelsteen, Joke, Froyen, Guy, Stratton, Mike, Futreal, Andy, Gecz, Jozef, Stevenson, Roger, Schwartz, Charles E., Valle, David, Huganir, Richard L., Wang, Tao

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