학술논문
'학술논문'
에서 검색결과 97건 | 목록
1~10
Academic Journal
Azmanov, Dimitar N.; Barnett, Christopher P.; Barry, Simon C.; Baynam, Gareth; Berkovic, Samuel F.; Christodoulou, John; Coman, David J.; Cooper, Sandra; Corbett, Mark A.; Delatycki, Martin; Dudding, Tracy E.; Fletcher, Sue; Gardner, Alison E.; Gecz, Jozef; Higgins, Megan J.; Hildebrand, Michael S.; Jolly, Lachlan A.; Lister, Ryan; McGaughran, Julie; Pflueger, Christian; Poulton, Cathryn; Roscioli, Tony; Hamish S. Scott, Ingrid Scheffer; Sinclair, Andrew H.; Spurdle, Amanda B.; Tan, Tiong Y.; van Eyk, Clare L.; Voineagu, Irina; Nicolas-Martinez, Emmylou C.; Robinson, Olivia; Gardner, Alison; Ritchie, Tarin; Kroes, Thessa; Scheffer, Ingrid E.; Barnier, Jean-Vianney; Rousseau, Véronique; Genevieve, David; Haushalter, Virginie; Piton, Amélie; Denommé-Pichon, Anne-Sophie; Bruel, Ange-Line; Nambot, Sophie; Isidor, Bertrand; Grigg, John; Gonzalez, Tina; Ghedia, Sondhya; Marchant, Rhett G.; Bournazos, Adam; Wong, Wui-Kwan; Webster, Richard I.; Evesson, Frances J.; Jones, Kristi J.; Cooper, Sandra T.
In The American Journal of Human Genetics 8 August 2024 111(8):1673-1699
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
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.; Roxburgh, Richard H.; Ryan, Monique M.; Sandaradura, Sarah A.; Scott, Liam W.; Valkanas, Elise; Weisburd, Ben; Young, Helen; Evesson, Frances J.; Waddell, Leigh B.; Cooper, Sandra T.
Annals of Clinical and Translational Neurology. May, 2024, Vol. 11 Issue 5, p1250, 17 p.
Academic Journal
In Paediatric Respiratory Reviews September 2018 28:3-10
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.
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[AR] Jones, Kristi J.
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