학술논문
'학술논문'
에서 검색결과 139건 | 목록
1~10
Academic Journal
Pellerin, David; Del Gobbo, Giulia F.; Couse, Madeline; Dolzhenko, Egor; Nageshwaran, Sathiji K.; Cheung, Warren A.; Xu, Isaac R. L.; Dicaire, Marie-Josée; Spurdens, Guinevere; Matos-Rodrigues, Gabriel; Stevanovski, Igor; Scriba, Carolin K.; Rebelo, Adriana; Roth, Virginie; Wandzel, Marion; Bonnet, Céline; Ashton, Catherine; Agarwal, Aman; Peter, Cyril; Hasson, Dan; Tsankova, Nadejda M.; Dewar, Ken; Lamont, Phillipa J.; Laing, Nigel G.; Renaud, Mathilde; Houlden, Henry; Synofzik, Matthis; Usdin, Karen; Nussenzweig, Andre; Napierala, Marek; Chen, Zhao; Jiang, Hong; Deveson, Ira W.; Ravenscroft, Gianina; Akbarian, Schahram; Eberle, Michael A.; Boycott, Kym M.; Pastinen, Tomi; Brais, Bernard; Zuchner, Stephan; Danzi, Matt C.
Nature Genetics. 56(7):1366-1370
Academic Journal
Andrea Cortese; Sarah J. Beecroft; Stefano Facchini; Riccardo Curro; Macarena Cabrera-Serrano; Igor Stevanovski; Sanjog R. Chintalaphani; Hasindu Gamaarachchi; Ben Weisburd; Chiara Folland; Gavin Monahan; Carolin K. Scriba; Lein Dofash; Mridul Johari; Bianca R. Grosz; Melina Ellis; Liam G. Fearnley; Rick Tankard; Justin Read; Ashirwad Merve; Natalia Dominik; Elisa Vegezzi; Ricardo P. Schnekenberg; Gorka Fernandez-Eulate; Marion Masingue; Diane Giovannini; Martin B. Delatycki; Elsdon Storey; Mac Gardner; David J. Amor; Garth Nicholson; Steve Vucic; Robert D. Henderson; Thomas Robertson; Jason Dyke; Vicki Fabian; Frank Mastaglia; Mark R. Davis; Marina Kennerson; OPDM study group; Ros Quinlivan; Simon Hammans; Arianna Tucci; Melanie Bahlo; Catriona A. McLean; Nigel G. Laing; Tanya Stojkovic; Henry Houlden; Michael G. Hanna; Ira W. Deveson; Paul J. Lockhart; Phillipa J. Lamont; Michael C. Fahey; Enrico Bugiardini; Gianina Ravenscroft
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Academic Journal
Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina; Oflazer, Piraye; Basak, Nazli A.; Kayserili, Hulya; Yesil, Gozde; Malfatti, Edoardo; Lilliker, James B.; Wicklund, Matthew; Pitceathly, Robert D. S.; Brady, Stefen; Brais, Bernard; Pellerin, David; Zuchner, Stephan; Danzi, Matt C.; Grandis, Marina; Comi, Giacomo P.; Corti, Stefania P.; Abati, Elena; Toscano, Antonio; Manini, Arianna; Ghia, Arianna; Tassorelli, Cristina; Quartesan, Ilaria; Simone, Roberto; Rossor, Alexander M.; Reilly, Mary M.; Carroll, Liam; Straub, Volker; Udd, Bjarne; Chen, Zhiyong; Bonne, Gisele; OPDM Study Grp
Academic Journal
Rodríguez Cruz, Pedro M; Ravenscroft, Gianina; Natera, Daniel; Carr, Aisling; Manzur, Adnan; Liu, Wei Wei; Vella, Norbert R; Jericó, Ivonne; Gonzalez-Quereda, Lidia; Gallano, Pia; Montalto, Simon Attard; Davis, Mark R; Lamont, Phillipa J; Laing, Nigel G; Bourque, Pierre; Nascimento, Andres; Muntoni, Francesco; Polavarapu, Kiran; Lochmüller, Hanns; Palace, Jacqueline; Beeson, David
In Neuromuscular Disorders February 2023 33(2):161-168
Academic Journal
Pellerin, David; Del Gobbo, Giulia F.; Couse, Madeline; Dolzhenko, Egor; Nageshwaran, Sathiji K.; Cheung, Warren A.; Xu, Isaac R. L.; Dicaire, Marie-Josee; Spurdens, Guinevere; Matos-Rodrigues, Gabriel; Stevanovski, Igor; Scriba, Carolin K.; Rebelo, Adriana; Roth, Virginie; Wandzel, Marion; Bonnet, Celine; Ashton, Catherine; Agarwal, Aman; Peter, Cyril; Hasson, Dan; Tsankova, Nadejda M.; Dewar, Ken; Lamont, Phillipa J.; Laing, Nigel G.; Renaud, Mathilde; Houlden, Henry; Synofzik, Matthis; Usdin, Karen; Nussenzweig, Andre; Napierala, Marek; Chen, Zhao; Jiang, Hong; Deveson, Ira W.; Ravenscroft, Gianina; Akbarian, Schahram; Eberle, Michael A.; Boycott, Kym M.; Pastinen, Tomi; Brais, Bernard; Zuchner, Stephan; Danzi, Matt C.; All Us Res Program Long Read
Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis A Case Report
Academic Journal
Parmar, Jevin M.; McNamara, Elyshia L.; Lamont, Phillipa J.; Kumar, Kishore R.; Rick, Audrey; Stoll, Marion; Cheong, Pak Leng; Ravenscroft, Gianina
Academic Journal
Emily McLeish; Anuradha Sooda; Nataliya Slater; Barbara Kachigunda; Kelly Beer; Shereen Paramalingam; Phillipa J. Lamont; Abha Chopra; Frank Louis Mastaglia; Merrilee Needham; Jerome David Coudert
Frontiers in Immunology, Vol 14 (2023)
Academic Journal
Tucker, Elena J.; Rius, Rocio; Jaillard, Sylvie; Bell, Katrina; Lamont, Phillipa J.; Travessa, André; Dupont, Juliette
Human Genetics. October 2020, Vol. 139 Issue 10, p1325, 19 p.
Academic Journal
Beecroft, Sarah J.; Lamont, Phillipa J.; Edwards, Samantha; Goullée, Hayley; Davis, Mark R.; Laing, Nigel G.; Ravenscroft, Gianina
Molecular Diagnosis & Therapy. 24(6):641-652
Academic Journal
Sarah J. Beecroft; Kyle S. Yau; Richard J. N. Allcock; Kym Mina; Rebecca Gooding; Fathimath Faiz; Vanessa J. Atkinson; Cheryl Wise; Padma Sivadorai; Daniel Trajanoski; Nina Kresoje; Royston Ong; Rachael M. Duff; Macarena Cabrera‐Serrano; Kristen J. Nowak; Nicholas Pachter; Gianina Ravenscroft; Phillipa J. Lamont; Mark R. Davis; Nigel G. Laing
Annals of Clinical and Translational Neurology, Vol 7, Iss 3, Pp 353-362 (2020)
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[검색어] Lamont, Phillipa J.
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