Hasil Pencarian - Frances Elmslie

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  1. 1
    The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits

    The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits oleh Daniel Bertrand, Frances Elmslie, Elaine Hughes, John Trounce, Thomas Sander, Sonia Bertrand, Ortrud K. Steinlein

    Diterbitkan 2005-12-01
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  2. 2
    QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction

    QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction oleh Avinaash V. Maharaj, Miho Ishida, Anna Rybak, Reem Elfeky, Afiya Andrews, Aakash Joshi, Frances Elmslie, Anni Joensuu, Katri Kantojärvi, Raina Y. Jia, John R. B. Perry, Edel A. O’Toole, Liam J. McGuffin, Vivian Hwa, Helen L. Storr

    Diterbitkan 2024-09-01
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  3. 3
    Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care

    Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care oleh Nicholas M. P. Annear, Nicholas M. P. Annear, Richard E. Appleton, Zahabiyah Bassi, Rupesh Bhatt, Patrick F. Bolton, Pamela Crawford, Alex Crowe, Maureen Tossi, Maureen Tossi, Frances Elmslie, Frances Elmslie, Eric Finlay, Daniel P. Gale, Alex Henderson, Elizabeth A. Jones, Elizabeth A. Jones, Simon R. Johnson, Simon R. Johnson, Shelagh Joss, Larissa Kerecuk, Graham Lipkin, Patrick J. Morrison, Finbar J. O'Callaghan, Jill Cadwgan, Jill Cadwgan, Jill Cadwgan, Albert C. M. Ong, Albert C. M. Ong, Julian R. Sampson, Charles Shepherd, J. Chris Kingswood, J. Chris Kingswood, J. Chris Kingswood

    Diterbitkan 2019-11-01
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  4. 4
    The English National Lynch Syndrome transformation project: an NHS Genomic Medicine Service Alliance (GMSA) programme

    The English National Lynch Syndrome transformation project: an NHS Genomic Medicine Service Alliance (GMSA) programme oleh Frances Elmslie, Anna Kim, Kevin J Monahan, Francesca Faravelli, Fiona Lalloo, David N Church, Jackie Cook, Tracie Miles, Neil Ryan, Steven A Hardy, Sally Lane, Alaa Elghobashy, Laura Monje-Garcia, Adam C Shaw, Simone Gelinas, Adele Tyson, Ruth Armstrong, Frank D McDermott, Valerie Ya Wen Wang

    Diterbitkan 2023-12-01
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  5. 5
    Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity

    Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity oleh Christina Kyrousi, Adam C. O’Neill, Agnieska Brazovskaja, Zhisong He, Pavel Kielkowski, Laure Coquand, Rossella Di Giaimo, Pierpaolo D’ Andrea, Alexander Belka, Andrea Forero Echeverry, Davide Mei, Matteo Lenge, Cristiana Cruceanu, Isabel Y. Buchsbaum, Shahryar Khattak, Guimiot Fabien, Elisabeth Binder, Frances Elmslie, Renzo Guerrini, Alexandre D. Baffet, Stephan A. Sieber, Barbara Treutlein, Stephen P. Robertson, Silvia Cappello

    Diterbitkan 2021-11-01
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  6. 6
    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation oleh Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, Katherine A. Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibaut, Jonathan Williams, Edward M. Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M. Lees, Harry G. Leitch, Jenny E. V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J. Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W. Davies, Andrew O. M. Wilkie, Anne Goriely

    Diterbitkan 2023-02-01
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  7. 7
    Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype

    Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype oleh Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d'Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C. Kingswood, Anna C. Jansen, Nobuo Shinohara, Shigeo Horie, Masaya Kubota, Jun Tohyama, Katsumi Imai, Mari Kaneda, Hideo Kaneko, Yasushi Uchida, Tomoko Kirino, Shoichi Endo, Yoshikazu Inoue, Katsuhisa Uruno, Ayse Serdaroglu, Zuhal Yapici, Banu Anlar, Sakir Altunbasak, Olga Lvova, Oleg Valeryevich Belyaev, Oleg Agranovich, Elena Vladislavovna Levitina, Yulia Vladimirovna Maksimova, Antonina Karas, Yuwu Jiang, Liping Zou, Kaifeng Xu, Yushi Zhang, Guoming Luan, Yuqin Zhang, Yi Wang, Meiling Jin, Dingwei Ye, Weiping Liao, Liemin Zhou, Jie Liu, Jianxiang Liao, Bo Yan, Yanchun Deng, Li Jiang, Zhisheng Liu, Shaoping Huang, Hua Li, Kijoong Kim, Pei-Lung Chen, Hsiu-Fen Lee, Jeng-Dau Tsai, Ching-Shiang Chi, Chao-Ching Huang, Kate Riney, Deborah Yates, Patrick Kwan, Surachai Likasitwattanakul, Charcrin Nabangchang, Lunliya Thampratankul Krisnachai Chomtho, Kamornwan Katanyuwong, Somjit Sriudomkajorn, Jo Wilmshurst, Reeval Segel, Tal Gilboa, Michal Tzadok, Aviva Fattal-Valevski, Panagiotis Papathanasopoulos, Antigone Syrigou Papavasiliou, Stylianos Giannakodimos, Stylianos Gatzonis, Evangelos Pavlou, Meropi Tzoufi, A. M. H. Vergeer, Marc Dhooghe, Hélène Verhelst, Filip Roelens, Marie Cecile Nassogne, Pierre Defresne, Liesbeth De Waele, Patricia Leroy, Nathalie Demonceau, Benjamin Legros, Patrick Van Bogaert, Berten Ceulemans, Lina Dom, Pierre Castelnau, Anne De Saint Martin, Audrey Riquet, Mathieu Milh, Claude Cances, Jean-Michel Pedespan, Dorothee Ville, Agathe Roubertie, Stéphane Auvin, Patrick Berquin, Christian Richelme, Catherine Allaire, Sophie Gueden, Sylvie Nguyen The Tich, Bertrand Godet, Maria Luz Ruiz Falco Rojas, Jaume Campistol Planas, Antonio Martinez Bermejo, Patricia Smeyers Dura, Susana Roldan Aparicio, Maria Jesus Martinez Gonzalez, Javier Lopez Pison, Manuel Oscar Blanco Barca, Eduardo Lopez Laso, Olga Alonso Luengo, Francisco Javier Aguirre Rodriguez, Ignacio Malaga Dieguez, Ana Camacho Salas, Itxaso Marti Carrera, Eduardo Martinez Salcedo, Maria Eugenia Yoldi Petri, Ramon Cancho Candela, Ines da Conceicao Carrilho, Jose Pedro Vieira, José Paulo da Silva Oliveira Monteiro, Miguel Jorge Santos de Oliveira Ferreira Leao, Catarina Sofia Marceano Ribeiro Luis, Carla Pires Mendonca, Milda Endziniene, Jurgis Strautmanis, Inga Talvik, Maria Paola Canevini, Antonio Gambardella, Dario Pruna, Salvatore Buono, Elena Fontana, Bernardo Dalla Bernardina, Carmen Burloiu, Iuliu Stefan Bacos Cosma, Mihaela Adela Vintan, Laura Popescu, Karel Zitterbart, Jaroslava Payerova, Ladislav Bratsky, Zuzana Zilinska, Ursula Gruber-Sedlmayr, Matthias Baumann, Edda Haberlandt, Kevin Rostasy, Ekaterina Pataraia, Frances Elmslie, Clare Ann Johnston, Pamela Crawford, Peter Uldall, Paul Uvebrant, Olof Rask, Marit Bjoernvold, Eylert Brodtkorb, Andreas Sloerdahl, Ragnar Solhoff, Martine Sofie Gilje Jaatun, Marek Mandera, Elzbieta Janina Radzikowska, Mariusz Wysocki, Michael Fischereder, Gerhard Kurlemann, Bernd Wilken, Adelheid Wiemer-Kruel, Klemens Budde, Klaus Marquard, Markus Knuf, Andreas Hahn, Hans Hartmann, Andreas Merkenschlager, Regina Trollmann

    Diterbitkan 2020-07-01
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