Søgeresultater - Frances Elmslie

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  1. 1
    Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an <i>SCN1A</i> mutation

    Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an <i>SCN1A</i> mutation af Neeti Hindocha, Lina Nashef, Frances Elmslie, Rachael Birch, Sameer M. Zuberi, Ammar Al‐Chalabi, Lia Crotti, Peter J. Schwartz, Andrew Makoff

    Udgivet 2008
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  2. 2
    Novel de novo <i><scp>EEF</scp>1A2</i> missense mutations causing epilepsy and intellectual disability

    Novel de novo <i><scp>EEF</scp>1A2</i> missense mutations causing epilepsy and intellectual disability af Wayne Lam, J Gordon Millichap, Dinesh C. Soares, Richard Chin, Ailsa McLellan, David Fitzpatrick, Frances Elmslie, Melissa Lees, G. Bradley Schaefer, Catherine M. Abbott

    Udgivet 2016
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    Artigo
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  3. 3
    SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes

    SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes af Caroline Fertleman, Mark D. Baker, Keith A. Parker, S. Louise Moffatt, Frances Elmslie, Bjarke Abrahamsen, Johan Östman, Norbert Klugbauer, John N. Wood, R. Mark Gardiner, Michele Rees

    Udgivet 2006
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    Artigo
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  4. 4
    De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

    De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome af Wendy D. Jones, Dimitra Dafou, Meriel McEntagart, Wesley J. Woollard, Frances Elmslie, Muriel Holder‐Espinasse, Melita Irving, Anand Saggar, Sarah Smithson, Richard C. Trembath, Charu Deshpande, Michael A. Simpson

    Udgivet 2012
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  5. 5
    The UK guidelines for management and surveillance of Tuberous Sclerosis Complex

    The UK guidelines for management and surveillance of Tuberous Sclerosis Complex af Sam Amin, J.C. Kingswood, Patrick Bolton, Frances Elmslie, Daniel P. Gale, C. C. Harland, Simon R. Johnson, Alasdair Parker, Julian R. Sampson, M Smeaton, Ingram Wright, Finbar O’Callaghan

    Udgivet 2018
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  6. 6
    Review of the Tuberous Sclerosis Renal Guidelines from the 2012 Consensus Conference: Current Data and Future Study

    Review of the Tuberous Sclerosis Renal Guidelines from the 2012 Consensus Conference: Current Data and Future Study af J.C. Kingswood, John J. Bissler, Klemens Budde, John C. Hulbert, Lisa M. Guay‐Woodford, Julian R. Sampson, Matthias Sauter, Jane A. Cox, Uday Patel, Frances Elmslie, Chris Anderson, Bernard A. Zonnenberg

    Udgivet 2016
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    Revisão
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  7. 7
    Sirolimus Therapy in Tuberous Sclerosis or Sporadic Lymphangioleiomyomatosis

    Sirolimus Therapy in Tuberous Sclerosis or Sporadic Lymphangioleiomyomatosis af D. M. Davies, Simon R. Johnson, Anne E. Tattersfield, J.C. Kingswood, Jane A. Cox, Deborah L. McCartney, Timothy C. Doyle, Frances Elmslie, Anand Saggar, Petrus J. de Vries, Julian R. Sampson

    Udgivet 2008
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  8. 8
    Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q

    Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q af Frances Elmslie, Michelle Rees, Magali Williamson, Michael Kerr, Marianne Juel Kjeldsen, Kiang An Pang, Anders Sundqvist, M. L. Friis, David Chadwick, A. Richens, Athanasios Covanis, Mauro Santos, Alexis Arzimanoglou, C. P. Panayiotopoulos, David Curtis, William Whitehouse, R M Gardiner

    Udgivet 1997
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  9. 9
    Functional Assessment of<i>TSC2</i>Variants Identified in Individuals with Tuberous Sclerosis Complex

    Functional Assessment of<i>TSC2</i>Variants Identified in Individuals with Tuberous Sclerosis Complex af Marianne Hoogeveen‐Westerveld, Rosemary Ekong, Sue Povey, Karin Mayer, N. Lannoy, Frances Elmslie, Martina Bebin, Kira A. Dies, Catherine Thompson, Steven Sparagana, Peter Maxwell Davies, Agnies M. van Eeghen, Elizabeth A. Thiele, Ans van den Ouweland, Dicky Halley, Mark Nellist

    Udgivet 2013
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  10. 10
    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 af Kevin Monahan, Neil Ryan, Laura Monje‐Garcia, Ruth Armstrong, David N. Church, Jackie Cook, Alaa El‐Ghobashy, Fiona Lalloo, S. Lane, Frank McDermott, Tracie Miles, Steven Hardy, Adele Tyson, Valerie Ya Wen Wang, Anna Kim, Simone Gelinas, Francesca Faravelli, Frances Elmslie, Adam Shaw

    Udgivet 2023
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    Artigo
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  11. 11
    Functional assessment of variants in the <i>TSC1</i> and <i>TSC2</i> genes identified in individuals with Tuberous Sclerosis Complex

    Functional assessment of variants in the <i>TSC1</i> and <i>TSC2</i> genes identified in individuals with Tuberous Sclerosis Complex af Marianne Hoogeveen‐Westerveld, Marjolein Wentink, Diana van den Heuvel, Melika Mozaffari, Rosemary Ekong, Sue Povey, Johan T. den Dunnen, Kay Metcalfe, Stephanie E. Vallee, Stefan Krueger, JoAnn Bergoffen, Vandana Shashi, Frances Elmslie, David J. Kwiatkowski, Julian R. Sampson, C. Vidales, Jacinta Dzarir, Javier Garcı́a-Planells, Kira A. Dies, Anneke Maat‐Kievit, Ans van den Ouweland, Dicky Halley, Mark Nellist

    Udgivet 2011
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  12. 12
    Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity

    Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity af 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, Fabien Guimiot, Elisabeth B. Binder, Frances Elmslie, Renzo Guerrini, Alexandre D. Baffet, Stephan A. Sieber, Barbara Treutlein, Stephen P. Robertson, Silvia Cappello

    Udgivet 2021
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  13. 13
    Delineation of the movement disorders associated with <i>FOXG1</i> mutations

    Delineation of the movement disorders associated with <i>FOXG1</i> mutations af Apostolos Papandreou, Ruth B. Schneider, Erika F. Augustine, Joanne Ng, Kshitij Mankad, Esther Meyer, Amy McTague, Adeline Ngoh, Cheryl Hemingway, Robert Robinson, Sophia Varadkar, Maria Kinali, Vincenzo Salpietro, Margaret C. O'Driscoll, Sheikh Basheer, Richard Webster, Shekeeb S. Mohammad, Shpresa Pula, Marian McGowan, Natalie Trump, Lucy Jenkins, Frances Elmslie, Richard H. Scott, Jane A. Hurst, Belén Pérez‐Dueñas, Alexander Paciorkowski, Manju A. Kurian

    Udgivet 2016
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  14. 14
    De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

    De Novo Mutations in YWHAG Cause Early-Onset Epilepsy af Ilaria Guella, Marna B. McKenzie, Daniel M. Evans, Sarah E. Buerki, Eric Toyota, Margot I. Van Allen, Mohnish Suri, Frances Elmslie, Marleen Simon, Koen L.I. van Gassen, Delphine Héron, Boris Keren, Caroline Nava, Mary Connolly, Michelle Demos, Matthew J. Farrer, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Tara Candido, Patrice Eydoux, Gabriella Horváth, Linda Huh, Tanya N. Nelson, Graham Sinclair, Clara van Karnebeek, Suzanne Vercauteren

    Udgivet 2017
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  15. 15
    The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

    The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations af Chun‐An Chen, Daniëlle G.M. Bosch, Megan T. Cho, Jill A. Rosenfeld, Marwan Shinawi, Richard A. Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence E. Walsh, Timothy Moss, Allison Schreiber, Cheri Schoonveld, Kristin G. Monaghan, Frances Elmslie, Ganka Douglas, F. Nienke Boonstra, Francisca Millan, Frans P.M. Cremers, Dianalee McKnight, Gabriele Richard, Jane Juusola, Fran Kendall, Keri Ramsey, Kwame Anyane‐Yeboa, Elfrida Malkin, Wendy K. Chung, Dmitriy Niyazov, Juan M. Pascual, Magdalena Walkiewicz, Vivekanand Veluchamy, Chumei Li, Fuki M. Hisama, Bert B.A. de Vries, Christian P. Schaaf

    Udgivet 2016
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    Errata/Corrigenda
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  16. 16
    A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

    A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect af Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger, Ann P. Wheeler, Anne Seawright, Elfride De Baere, Hannah Verdin, L. Therese Bergendahl, Alan J. Quigley, Joe Rainger, Abhijit Dixit, Ajoy Sarkar, Eduardo Laso, Rocío Sánchez‐Carpintero, Jesús Barrio‐Barrio, Pierre Bitoun, Trine Prescott, Ruth Riise, Shane McKee, Jackie Cook, Lisa McKie, Berten Ceulemans, Françoise Meire, I. Karen Temple, Fabienne Prieur, Jonathan Williams, Penny Clouston, Andrea H. Németh, Siddharth Banka, Hemant Bengani, Mark T. Handley, Elisabeth Freyer, Allyson Ross, Veronica van Heyningen, Joseph A. Marsh, Frances Elmslie, David Fitzpatrick

    Udgivet 2016
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  17. 17
    Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

    Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing af Karen Stals, Matthew N. Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Julia Rankin, Carolyn Tysoe, Garan Jones, Adam C. Gunning, Hana Lango Allen, Lisa Bradley, Angela F. Brady, Helena Carley, Jenny Carmichael, Bruce Castle, Deirdre Cilliers, Helen Cox, Charu Deshpande, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Andrew E. Fry, Alan Fryer, Muriel Holder, Tessa Homfray, Emma Kivuva, Victoria McKay, Ruth Newbury‐Ecob, Michael Parker, Ravi Savarirayan, Claire Searle, Nora Shannon, Deborah Shears, Sarah Smithson, Ellen Thomas, Peter D. Turnpenny, Vinod Varghese, Pradeep Vasudevan, Emma Wakeling, Emma L. Baple, Sian Ellard

    Udgivet 2017
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  18. 18
    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 af Víctor Faúndes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Björnsson, Lisa Bradley, Angela F. Brady, Elise Brischoux‐Boucher, Han G. Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, M. Cristina Digilio, Frances Elmslie, Andrew E. Fry, Harinder Gill, Jane A. Hurst, Diana Johnson, Sophie Julia, Katherine Lachlan, Robert Roger Lebel, Melissa Byler, Eric Gershon, Edmond G. Lemire, Maria Gnazzo, Francesca Romana Lepri, Antonia Marchèse, Meriel McEntagart, Julie McGaughran, Seiji Mizuno, Nobuhiko Okamoto, Claudine Rieubland, Jonathan Rodgers, Erina Sasaki, Emmanuel Scalais, Ingrid Scurr, Mohnish Suri, Ineke van der Burgt, Naomichi Matsumoto, Noriko Miyake, Valérie Benoît, Damien Lederer, Siddharth Banka

    Udgivet 2021
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  19. 19
    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder af Anne Gregor, Lynette G. Sadleir, Reza Asadollahi, Silvia Azzarello‐Burri, Agatino Battaglia, Lilian Bomme Ousager, Paranchai Boonsawat, Ange‐Line Bruel, Rebecca Buchert, Eduardo Calpena, Benjamin Cogné, Bruno Dallapiccola, Felix Distelmaier, Frances Elmslie, Laurence Faivre, Tobias B. Haack, Victoria Harrison, Alex Henderson, David Hunt, Bertrand Isidor, Pascal Joset, Satoko Kumada, Augusta M.A. Lachmeijer, Melissa Lees, Sally Ann Lynch, Francisco Martı́nez, Naomichi Matsumoto, Carey McDougall, Heather C Mefford, Noriko Miyake, Candace T. Myers, Sébastien Moutton, Addie Nesbitt, Antonio Novelli, Carmen Orellana, Anita Rauch, Mónica Roselló, Ken Saida, Avni Santani, Ajoy Sarkar, Ingrid E. Scheffer, Marwan Shinawi, Katharina Steindl, Joseph D. Symonds, Elaine H. Zackai, André Reis, Heinrich Sticht, Christiane Zweier

    Udgivet 2018
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  20. 20
    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 af Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, K Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, L Thibaut, Jonathan Williams, Edward 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 Lees, Harry G. Leitch, Jenny E.V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah Shears, Lucy Side, Miranda Splitt, A. Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, R. W. Davies, Andrew O.M. Wilkie, Anne Goriely

    Udgivet 2023
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