Canlyniadau Chwilio - Emma Ashton

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  1. 1
    Clinical and diagnostic features of Bartter and Gitelman syndromes

    Clinical and diagnostic features of Bartter and Gitelman syndromes gan Patrick R. Walsh, Yincent Tse, Emma Ashton, Daniela Iancu, Lucy Jenkins, Marc Bienias, Robert Kleta, William van’t Hoff, Detlef Böckenhauer

    Cyhoeddwyd 2017
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  2. 2
    High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults

    High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults gan Marguerite Hureaux, Emma Ashton, Karin Dahan, Pascal Houillier, Anne Blanchard, Catherine Cormier, Eugénie Koumakis, Daniela Iancu, Hendrica Belge, Pascale Hilbert, Annelies Rotthier, Elena Del Favero, Franz Schaefer, Robert Kleta, Detlef Böckenhauer, Xavier Jeunemaı̂tre, Olivier Devuyst, Stephen B. Walsh, Rosa Vargas‐Poussou

    Cyhoeddwyd 2019
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  3. 3
    A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

    A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies gan Matteo Bovolenta, Marcella Neri, Sergio Fini, M. Fabris, Cecilia Trabanelli, A. Venturoli, E. Martoni, Elena Bassi, Pietro Spitali, Simona Brioschi, Maria Sofia Falzarano, Paola Rimessi, Roberto Ciccone, Emma Ashton, Joanne McCauley, Shu Yau, Stephen Abbs, Francesco Muntoni, Luciano Merlini, Francesca Gualandi, Alessandra Ferlini

    Cyhoeddwyd 2008
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  4. 4
    Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis

    Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis gan Ebun Omoyinmi, Ariane Standing, Annette Keylock, Fiona Price-Kuehne, Sónia Gomes, Dorota Rowczenio, Sira Nanthapisal, Thomas Cullup, Rodney Nyanhete, Emma Ashton, Claire Murphy, Megan A. Clarke, Helena Ahlfors, Lucy Jenkins, Kimberly Gilmour, Despina Eleftheriou, Helen J. Lachmann, Philip N. Hawkins, Nigel Klein, Paul Brogan

    Cyhoeddwyd 2017
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  5. 5
    Acidosis and Deafness in Patients with Recessive Mutations in FOXI1

    Acidosis and Deafness in Patients with Recessive Mutations in FOXI1 gan Sven Enerbäck, Daniel Nilsson, Noel Edwards, Mikael Heglind, Sumaya Alkanderi, Emma Ashton, Asma Deeb, Feras E.B. Kokash, Abdul Rahim Ali Bakhsh, William van’t Hoff, Stephen B. Walsh, Felice D’Arco, Arezoo Daryadel, Soline Bourgeois, Carsten A. Wagner, Robert Kleta, Detlef Böckenhauer, John A. Sayer

    Cyhoeddwyd 2017
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  6. 6
    Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

    Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies gan Emma Ashton, Anne Debost‐Legrand, Valérie Benoît, Isabelle Roncelin, Annabelle Vénisse, Maria‐Christina Zennaro, Xavier Jeunemaı̂tre, Daniela Iancu, William G. van’t Hoff, Stephen B. Walsh, Nathalie Godefroid, Annelies Rotthier, Elena Del Favero, Olivier Devuyst, Franz Schaefer, Lucy Jenkins, Robert Kleta, Karin Dahan, Rosa Vargas‐Poussou, Detlef Böckenhauer

    Cyhoeddwyd 2018
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  7. 7
    Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

    Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-conce... gan Maria Kinali, Virginia Arechavala‐Gomeza, Lucy Feng, Sebahattin Çirak, David M. Hunt, C. Adkin, Michela Guglieri, Emma Ashton, Stephen Abbs, Petros Nihoyannopoulos, Maria Elena Garralda, Mary Rutherford, Caroline McCulley, Linda Popplewell, Ian R. Graham, George Dickson, Matthew J. A. Wood, Dominic J. Wells, Steve D. Wilton, Ryszard Kole, Volker Straub, Kate Bushby, C. Sewry, Jennifer E. Morgan, Francesco Muntoni

    Cyhoeddwyd 2009
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  8. 8
    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study gan Katherine Schon, Rita Horváth, Wei Wei, Claudia Calabrese, Arianna Tucci, Kristina Ibáñez, Thiloka Ratnaike, Robert D. S. Pitceathly, Enrico Bugiardini, Rosaline C. M. Quinlivan, Michael G. Hanna, Emma Clement, Emma Ashton, John A. Sayer, Paul M. Brennan, Dragana Josifova, Louise Izatt, Carl Fratter, Victoria Nesbitt, Timothy Barrett, Dominic J McMullen, Audrey Smith, Charulata Deshpande, Sarah Smithson, Richard Festenstein, Natalie Canham, Mark J. Caulfield, Henry Houlden, Shamima Rahman, Patrick F. Chinnery

    Cyhoeddwyd 2021
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  9. 9
    Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

    Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria gan Judy Savige, Helen Storey, E. Watson, Jens Michael Hertz, Constantinos Deltas, Alessandra Renieri, Francesca Mari, Pascale Hilbert, Pavlína Plevová, Peter H. Byers, Agnė Čerkauskaitė, Martin C. Gregory, Rimantė Čerkauskienė, Danica Galešić Ljubanović, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, H. Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuševa Martić, Asheeta Gupta, Albertien M. van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith Al‐Rabadi, Kathleen Claes, Anniek Corveleyn, Elke Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabet Ars, Agnieszka Bierżyńska, Concetta Gangemi, Beata S. Lipska‐Ziętkiewicz

    Cyhoeddwyd 2021
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  10. 10
    Guidelines for Genetic Testing and Management of Alport Syndrome

    Guidelines for Genetic Testing and Management of Alport Syndrome gan Judy Savige, Beata S. Lipska‐Ziętkiewicz, E. Watson, Jens Michael Hertz, Constantinos Deltas, Francesca Mari, Pascale Hilbert, Pavlína Plevová, Peter H. Byers, Agnė Čerkauskaitė, Martin C. Gregory, Rimantė Čerkauskienė, Danica Galešić Ljubanović, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, H. Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuševa Martić, Asheeta Gupta, Albertien M. van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith Al‐Rabadi, Kathleen Claes, Anniek Corveleyn, Elke Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabet Ars, Agnieszka Bierżyńska, Concetta Gangemi, Alessandra Renieri, Helen Storey, Frances Flinter

    Cyhoeddwyd 2021
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  11. 11
    Scalable and robust SARS-CoV-2 testing in an academic center

    Scalable and robust SARS-CoV-2 testing in an academic center gan Jim Aitken, Karen Ambrose, Sam Barrell, Rupert Beale, Ganka Bineva‐Todd, Dhruva Biswas, Richard Byrne, Simon Caidan, Peter Cherepanov, Laura Churchward, Graham Clark, Margaret Crawford, Laura Cubitt, Vicky Dearing, Christopher Earl, A. Edwards, Chris Ekin, Efthymios Fidanis, Alessandra Gaiba, S.J. Gamblin, Sonia Gandhi, Jacki Goldman, Robert Goldstone, Paul R. Grant, Maria Greco, Judith Heaney, Steve Hindmarsh, Catherine Houlihan, Michael Howell, Michael Hubank, Deborah Hughes, Rachael Instrell, Deborah Jackson, Mariam Jamal‐Hanjani, Ming Jiang, Mark Johnson, Leigh Jones, Nnennaya Kanu, George Kassiotis, Stuart A. Kirk, Svend Kjær, Andrew Levett, Lisa J. Levett, Marcel Levi, Wei-Ting Lu, James I. MacRae, J. B. Matthews, Laura E. McCoy, Catherine Moore, David Moore, Eleni Nastouli, Jérôme Nicod, Luke Nightingale, Jessica Olsen, Nicola O’Reilly, Amar Pabari, Venizelos Papayannopoulos, Namita Patel, Nigel Peat, Marc Pollitt, Peter J. Ratcliffe, Caetano Reis e Sousa, Annachiara Rosa, Rachel Rosenthal, Chloë Roustan, Andrew Rowan, Gee Yen Shin, Daniel M. Snell, Ok‐Ryul Song, Moira J. Spyer, Amy Strange, Charles Swanton, James M. A. Turner, Melanie Turner, Andreas Wack, P.A. Walker, Sophia Ward, Wai Keong Wong, J. D. Wright, Mary Wu, Jim Aitken, Zoe Allen, Rachel Ambler, Karen Ambrose, Emma Ashton, Alida Avola, Samutheswari Balakrishnan, Caitlin Barns-Jenkins, Genevieve Barr, Sam Barrell, Souradeep Basu, Rupert Beale, Clare Beesley, Nisha Bhardwaj, Shahnaz Bibi, Ganka Bineva‐Todd, Dhruva Biswas, Michael J. Blackman, Dominique Bonnet, Faye Bowker

    Cyhoeddwyd 2020
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