학술논문
'학술논문'
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1~10
Academic Journal
Ji, Charli; Kariyawasam, Didu S.; Sampaio, Hugo; Lorentzos, Michelle; Jones, Kristi J.; Farrar, Michelle A.
In The Lancet Regional Health - Western Pacific April 2024 45
Academic Journal
Llansó, Laura; Moore, Ursula; Bolano-Diaz, Carla; James, Meredith; Blamire, Andrew M.; Carlier, Pierre G.; Rufibach, Laura; Gordish-Dressman, Heather; Boyle, Georgina; Hilsden, Heather; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C.; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Pegoraro, Elena; Mendell, Jerry R.; Straub, Volker; Díaz-Manera, Jordi
In Neuromuscular Disorders April 2023 33(4):349-357
Academic Journal
Gallon, Richard; Phelps, Rachel; Hayes, Christine; Brugieres, Laurence; Guerrini-Rousseau, Léa; Colas, Chrystelle; Muleris, Martine; Ryan, Neil A.J.; Evans, D. Gareth; Grice, Hannah; Jessop, Emily; Kunzemann-Martinez, Annabel; Marshall, Lilla; Schamschula, Esther; Oberhuber, Klaus; Azizi, Amedeo A.; Baris Feldman, Hagit; Beilken, Andreas; Brauer, Nina; Brozou, Triantafyllia; Dahan, Karin; Demirsoy, Ugur; Florkin, Benoît; Foulkes, William; Januszkiewicz-Lewandowska, Danuta; Jones, Kristi J.; Kratz, Christian P.; Lobitz, Stephan; Meade, Julia; Nathrath, Michaela; Pander, Hans-Jürgen; Perne, Claudia; Ragab, Iman; Ripperger, Tim; Rosenbaum, Thorsten; Rueda, Daniel; Sarosiek, Tomasz; Sehested, Astrid; Spier, Isabel; Suerink, Manon; Zimmermann, Stefanie-Yvonne; Zschocke, Johannes; Borthwick, Gillian M.; Wimmer, Katharina; Burn, John; Jackson, Michael S.; Santibanez-Koref, Mauro
In Gastroenterology April 2023 164(4):579-592
Academic Journal
Moore, Ursula; Fernández-Simón, Esther; Schiava, Marianela; Cox, Dan; Gordish-Dressman, Heather; James, Meredith K.; Mayhew, Anna; Wilson, Ian; Guglieri, Michela; Rufibach, Laura; Blamire, Andrew; Carlier, Pierre G.; Mori-Yoshimura, Madoka; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C.; Paradas, Carmen; Stojkovic, Tanya; Bravver, Elena; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate; Diaz-Manera, Jordi; Straub, Volker
In Neuromuscular Disorders February 2023 33(2):199-207
Academic Journal
Moore, Ursula; Gordish, Heather; Diaz-Manera, Jordi; James, Meredith K.; Mayhew, Anna G.; Guglieri, Michela; Fernandez-Torron, Roberto; Rufibach, Laura E.; Feng, Jia; Blamire, Andrew M.; Carlier, Pierre G.; Spuler, Simone; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C.; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Pegoraro, Elena; Lowes, Linda Pax; Mendell, Jerry R.; Bushby, Kate; Straub, Volker
In Neuromuscular Disorders April 2021 31(4):265-280
Academic Journal
In Paediatric Respiratory Reviews September 2018 28:3-10
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Academic Journal
Marchant, Rhett G.; Bryen, Samantha J.; Bahlo, Melanie; Cairns, Anita; Chao, Katherine R.; Corbett, Alastair; Davis, Mark R.; Ganesh, Vijay S.; Ghaoui, Roula; Jones, Kristi J.; Kornberg, Andrew J.; Lek, Monkol; Liang, Christina; MacArthur, Daniel G.; Oates, Emily C.; O'Donnell‐Luria, Anne; O'Grady, Gina L.; Osei‐Owusu, Ikeoluwa A.; Rafehi, Haloom; Reddel, Stephen W.
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine
Academic Journal
Ma, Alan; Newing, Timothy P.; O'Shea, Rosie; Gokoolparsadh, Akira; Murdoch, Emma; Hayward, Janette; Shannon, Gillian; Kevin, Lucy; Bennetts, Bruce; Ho, Gladys; Smith, Janine; Shah, Margit; Jones, Kristi J.; Josephi-Taylor, Sarah; Sandaradura, Sarah A.; Ades, Lesley; Jamieson, Robyn; Rankin, Nicole M.
Academic Journal
Moore, Ursula; Araújo, Ericky Caldas De Almeida; Reyngoudt, Harmen; Gordish‐Dressman, Heather; Smith, Fiona E.; Wilson, Ian; James, Meredith; Mayhew, Anna; Rufibach, Laura; Day, John W.; Jones, Kristi J.; Bharucha‐Goebel, Diana X.; Salort‐Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C.; Paradas, Carmen; Stojkovic, Tanya; Mori‐Yoshimura, Madoka; Bravver, Elena; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate; Blamire, Andrew M.; Straub, Volker; Carlier, Pierre G.; Diaz‐Manera, Jordi
Journal of Cachexia, Sarcopenia and Muscle. December, 2022, Vol. 13 Issue 6, p2888, 10 p.
Academic Journal
Davidson, Joanne E.; Russell, Jacqueline S.; Martinez, Noelia Nunez; Mowat, David R.; Jones, Kristi J.; Kirk, Edwin P.; Kariyawasam, Didu; Farrar, Michelle; D'Silva, Arlene
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[AR] Jones, Kristi J.
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