Search Results - Gemma Poke

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  1. 1
    Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children

    Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children by Gemma Poke, James Stanley, Ingrid E. Scheffer, Lynette G. Sadleir

    Published 2022
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  2. 2
    A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing

    A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing by Benjamin Kamien, Anne Ronan, Gemma Poke, Ingrid Sinnerbrink, Gareth Baynam, Michelle C. Ward, William T. Gibson, Tracy Dudding‐Byth, Rodney J. Scott

    Published 2018
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  3. 3
    The epileptology of GNB5 encephalopathy

    The epileptology of GNB5 encephalopathy by Gemma Poke, Chontelle King, Alison M. Muir, Guillem de Valles‐Ibáñez, Michele Germano, Carolina Fischinger Moura de Souza, Jasmine Lee‐Fong Fung, Brian Hon‐Yin Chung, Cheuk Wing Fung, Cyril Mignot, Adina Iléa, Boris Keren, Anne‐Isabelle Vermersch, Suzanne L. Davis, Thorsten Stanley, Mahendranath Moharir, Pekka Kannus, Zhuo Shao, Natascia Malerba, Giuseppe Merla, Heather C. Mefford, Ingrid E. Scheffer, Lynette G. Sadleir

    Published 2019
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  4. 4
    A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

    A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders by Kathie J. Ngo, Jessica E. Rexach, Hane Lee, Lauren E. Petty, Susan Perlman, Juliana M. Valera, Joshua L. Deignan, Yuanming Mao, Mamdouh Aker, Jennifer E. Posey, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Eric Boerwinkle, Donna M. Muzny, Alexandra Nelson, Sharon Hassin‐Baer, Gemma Poke, Katherine Neas, Michael D. Geschwind, Wayne W. Grody, Richard A. Gibbs, Daniel H. Geschwind, James R. Lupski, Jennifer E. Below, Stanley F. Nelson, Brent L. Fogel

    Published 2019
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  5. 5
    <i>WRN</i>Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

    <i>WRN</i>Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects by Koutaro Yokote, Sirisak Chanprasert, Lin Lee, Katharina Eirich, Minoru Takemoto, Aki Watanabe, Naoko Koizumi, Davor Lessel, Takayasu Mori, Fuki M. Hisama, Paula D. Ladd, Brad Angle, Hagit Baris, Kıvanç Çefle, Şükrü Palanduz, Şükrü Öztürk, Antoinette Chateau, Kentaro Deguchi, T.K.M Easwar, Antonio Federico, Amy Fox, Theresa A. Grebe, Beverly N. Hay, Sheela Nampoothiri, Karen Seiter, Elizabeth A. Streeten, Raúl E. Piña-Aguilar, Gemma Poke, Martin Poot, Renata Posmyk, George M. Martin, Christian Kubisch, Detlev Schindler, Junko Oshima

    Published 2016
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  6. 6
    <i>STAC3</i>variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

    <i>STAC3</i>variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility by Irina Zaharieva, Anna Sárközy, Pinki Munot, Adnan Manzur, Gina O’Grady, John Rendu, E. Malfatti, Helge Amthor, Laurent Servais, Jon Andoni Urtizberea, Osório Lopes Abath Neto, Edmar Zanoteli, Sandra Donkervoort, Juliet Taylor, Joanne Dixon, Gemma Poke, A. Reghan Foley, Chris Holmes, Glyn D. Williams, Muriel Holder, Sabrina W. Yum, Līvija Medne, Susana Quijano‐Roy, Norma B. Romero, Julien Fauré, Lucy Feng, Lailá Bastaki, Mark R. Davis, Rahul Phadke, Caroline A. Sewry, Carsten G. Bönnemann, Heinz Jungbluth, Christoph Bachmann, Susan Treves, Francesco Muntoni

    Published 2018
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  7. 7
    The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients

    The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients by Ngoc Minh Nguyen, Yassemine Khawajkie, Nawel Mechtouf, Maryam Rezaei, Magali Bréguet, Elvira Kurvinen, Sujatha Jagadeesh, Aslı Ece Solmaz, Mónica Aguinaga‐Ríos, Reda Hemida, Mehmet Harma, Cécile Rittore, Kurosh Rahimi, Jocelyne Arseneau, Karine Hovanes, Ronald Clisham, Tiffanee Lenzi, Bonnie Scurry, Marie‐Claude Addor, Rashmi Bagga, Genevieve Girardet Nendaz, Vildana Finci, Gemma Poke, Leslie Grimes, Nerine Gregersen, Kayla York, Pierre‐Adrien Bolze, Chirag Patel, Hossein Mozdarani, Jacques Puechberty, Jessica G. Scotchie, Majid Fardaei, Müge Harma, R. J McKinlay Gardner, Trilochan Sahoo, Tracy Dudding‐Byth, Radhika Srinivasan, Philippe Sauthier, Rima Slim

    Published 2018
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  8. 8
    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome by Saskia M. Maas, Adam Shaw, Hennie Bikker, H.-J. Lüdecke, Karin van der Tuin, Magdalena Badura‐Stronka, Elga Fabia Belligni, Elisa Biamino, Maria Teresa Bonati, Daniel R. Carvalho, Jan-Maarten Cobben, de Man, Nicolette S. den Hollander, Nataliya Di Donato, Livia Garavelli, Sabine Grønborg, Johanna C. Herkert, A. Jeannette M. Hoogeboom, Aleksander Jamsheer, Anna Latos‐Bieleńska, Anneke Maat‐Kievit, Cinzia Magnani, Carlo Marcelis, Inge B. Mathijssen, Maartje Nielsen, Ellen Otten, Lilian Bomme Ousager, Jacek Pilch, Astrid S. Plomp, Gemma Poke, Anna Poluha, Renata Posmyk, Claudine Rieubland, Margharita Silengo, Marleen Simon, Elisabeth Steichen, Connie T. R. M. Stumpel, Katalin Szakszon, Edit Polonkai, Jenneke van den Ende, Antony van der Steen, Ton van Essen, Arie van Haeringen, Johanna M. van Hagen, Joanne Verheij, Marcel M.A.M. Mannens, Raoul C. M. Hennekam

    Published 2015
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  9. 9
    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism by Morad Ansari, Gemma Poke, Quentin RV. Ferry, Kathleen A. Williamson, Roland Christopher Lochore Aldridge, Alison Meynert, Hemant Bengani, Cheng Yee Chan, Hülya Kayserili, Şahin Avcı, Raoul C. M. Hennekam, Anne Katrin Lampe, E. Redeker, Tessa Homfray, Alison Ross, Marie Falkenberg Smeland, Sahar Mansour, Michael Parker, Jacqueline Cook, Miranda Splitt, Richard B. Fisher, Alan Fryer, Alex Magee, Andrew O.M. Wilkie, Angela Barnicoat, Angela F. Brady, Nicola Cooper, Catherine Mercer, Charu Deshpande, Christopher Bennett, Daniela T. Pilz, Deborah Ruddy, Deirdre Cilliers, Diana Johnson, Dragana Josifova, Elisabeth Rosser, Elizabeth M. Thompson, Emma Wakeling, Esther Kinning, Fiona Stewart, Frances Flinter, Katta M. Girisha, Helen Cox, Helen V. Firth, Helen Kingston, Jamie S Wee, Jane A. Hurst, Jill Clayton‐Smith, John Tolmie, Julie Vogt, Katrina Tatton‐Brown, Kate Chandler, Katrina Prescott, Louise C. Wilson, Mahdiyeh Behnam, Meriel McEntagart, Rosemarie Davidson, Sally Ann Lynch, Sanjay M. Sisodiya, Sarju Mehta, Shane McKee, Shehla Mohammed, Simon Holden, Soo-Mi Park, Susan Holder, Victoria Harrison, Vivienne McConnell, Wayne Lam, Andrew Green, Dian Donnai, Maria Bitner‐Glindzicz, Deirdre E. Donnelly, Christoffer Nellåker, Martin S. Taylor, David Fitzpatrick

    Published 2014
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