학술논문
'학술논문'
에서 검색결과 94건 | 목록
1~20
Academic Journal
Groeneweg, Stefan; van Geest, Ferdy S; Martín, Mariano; Dias, Mafalda; Frazer, Jonathan; Medina-Gomez, Carolina; Sterenborg, Rosalie BTM; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J; Teumer, Alexander; Abaci, Ayhan; van den Akker, Erica LT; Ambegaonkar, Gautam P; Armour, Christine M; Bacos, Iiuliu; Bakhtiani, Priyanka; Barca, Diana; Bauer, Andrew J; van den Berg, Sjoerd AA; van den Berge, Amanda; Bertini, Enrico; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Brunner, Doris; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; Chesover, Alexander; Christian, Peter; Coenen-van der Spek, Jet; de Coo, Irenaeus FM; Coutant, Regis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dremmen, Marjolein HG; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi; George, Belinda; Gevers, Evelien F; Greenup, Erin; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Hurst, Anna C; Huynh, Tony; Isaza, Amber R; Klosowska, Anna; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Kulkarni, Abhishek; Laemmle, Alexander; LaFranchi, Stephen H; Lawson-Yuen, Amy; Lebl, Jan; Leeuwenburgh, Selmar; Linder-Lucht, Michaela; López Martí, Anna; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana Krenek; Mancilla, Edna E; McCormick, Kenneth L; McGowan, Anne; Mericq, Veronica; Lora, Felipe Monti; Moran, Carla; Muller, Katalin E; Nicol, Lindsey E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Seckold, Rowen; Seven Menevse, Tuba; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; Stals, Milou AM; Stegenga, Merel T; Stoupa, Athanasia
Nature Communications. 16(1)
Academic Journal
Henzi, Bettina C, MD; Schmidt, Simone, MD; Nagy, Sara, MD; Rubino-Nacht, Daniela; Schaedelin, Sabine, MSc; Putananickal, Niveditha, MSc; Stimpson, Georgia, MSc; Amthor, Helge, MD; Childs, Anne-Marie, MD; Deconinck, Nicolas, Prof; de Groot, Imelda, MD; Horrocks, Iain, MD; Houwen-van Opstal, Saskia, MD; Laugel, Vincent, MD; Lopez Lobato, Mercedes, MD; Madruga Garrido, Marcos, MD; Nascimento Osorio, Andrés, MD; Schara-Schmidt, Ulrike, Prof; Spinty, Stefan, MD; von Moers, Arpad, MD; Lawrence, Fiona; Hafner, Patricia, MD; Dorchies, Olivier M, PhD; Fischer, Dirk, Prof; Ridout, Deborah; Muntoni, Francesco; Manzur, Adnan.; Quinlivan, Rosaline; Baranello, Giovanni; Main, Marion; Abbott, Lianne; Burnett, Nicola; Rohwer, Anne-Marie; Milev, Evelin; Wolfe, Adrian; O'Reilly, Emer; Straub, Volker; Guglieri, Michela; Bettolo, Chiara; Muni-Lofra, Robert; James, Meredith; Sodhi, Jassi; Willis, Tracey; Wright, Elizabeth; Rylance, Claire; Birchall, Nicola; Pysden, Karen; Martos-Lozano, Cristina; Pallant, Lindsey; Wadsworth, Steph; Madhu, Rajesh; Karuvattil, Rajesh; Gregson, Sarah; Clark, Stuart; Wraige, Elizabeth; Jungbluth, Heinz; Gowda, Vasantha; Vanegas, Maria; Sheehan, Ennie; Wolfe, Amy; Schofield, Alex; Hughes, Imelda; McCullagh, Gary; Whitehouse, Emily; Varma, Uma.; Warner, Sinead; Reading, Emily; Benson, Lucy.; Moustoukas, Jenny; Strachan, Kate; Emery, Nicholas; Ong, Min; Atherton, Mark; Durso, Sarah; White, Kay; Hinde, Neil; Skone, Kate; Sanchez Marco, Silvia; Saxena, Anurag; Gibbon, Frances; TeWaterNaude, Johann; Davis, Hayley; Thompson, Laura; Majumdar, Anirban; Murugan, Archana; Lynch, Mollie; Milton, Emily; Guarino, Iolanda; Tomlinson, Richard; Jarvis, Heather; Berry, Jane; Wills, Lucy; Frimpong-Ansah, Claire; Watson, Jackie; Robertson, Gemma; Cobb, Gavin; Burslem, Julie; Wong, Jarod; Brunklaus, Andreas; DiMarco, Marina; Brown, Sarah; Mckenzie, Susanne; Torne, Krupa; Mohamed, Rana; Velmurugan, Vel; Prasad, Manish; Sedehizadeh, Saam; Williamson, Sarah; Fenty, Paula; Degoede, Christian; Parkes, Amy; Illingworth, Marjorie; Bhangu, Neeraj; Geary, Michelle; Palmer, Jenni; Shill, Catherine; White, Cathy; Greenfield, Kathryn; Tomos, Heledd; Gates, Sarah; Tirupathi, Sandya; Shah, Ayaz; O'Donoghue, Dara; McVeigh, Janine; McFetridge, Jaci; Nic Fhirleinn, Grainne; Hussain, Nahin; Baskaran, Dhinesh; Lambat, Zubeida; Ambegaonkar, Gautam; Krishnakumar, Deepa; Taylor, Jacqui; Moores, Jo; Stephen, Elma; Tewnion, Jane; Ramdas, Sithara; Sa, Mario; Servais, Laurent; Lilien, Charlotte; Ramjattan, Hayley; Taylor, Francesca; English, Hayley; Parasuraman, Deepak; Rabb, Rosanna; McMurchie, Heather
The Lancet Neurology. 22(10):890-899
Academic Journal
Sanchis-Juan, Alba ; Megy, Karyn ; Stephens, Jonathan ; Armirola Ricaurte, Camila ; Dewhurst, Eleanor ; Low, Kayyi ; French, Courtney E. ; Grozeva, Detelina ; Stirrups, Kathleen ; Erwood, Marie ; McTague, Amy ; Penkett, Christopher J. ; Shamardina, Olga ; Tuna, Salih ; Daugherty, Louise C. ; Gleadall, Nicholas ; Duarte, Sofia T. ; Hedrera-Fernández, Antonio ; Vogt, Julie ; Ambegaonkar, Gautam ; Chitre, Manali ; Josifova, Dragana ; Kurian, Manju A. ; Parker, Alasdair ; Rankin, Julia ; Reid, Evan ; Wakeling, Emma ; Wassmer, Evangeline ; Woods, C. Geoffrey ; Raymond, F. Lucy ; Carss, Keren J.
In The American Journal of Human Genetics 3 August 2023 110(8):1343-1355
Academic Journal
Johannesen, Katrine M. ; Iqbal, Sumaiya ; Guazzi, Milena ; Mohammadi, Nazanin A. ; Pérez-Palma, Eduardo ; Schaefer, Elise ; De Saint Martin, Anne ; Abiwarde, Marie Therese ; McTague, Amy ; Pons, Roser ; Piton, Amelie ; Kurian, Manju A. ; Ambegaonkar, Gautam ; Firth, Helen ; Sanchis-Juan, Alba ; Deprez, Marie ; Jansen, Katrien ; De Waele, Liesbeth ; Briltra, Eva H. ; Verbeek, Nienke E. ; van Kempen, Marjan ; Fazeli, Walid ; Striano, Pasquale ; Zara, Federico ; Visser, Gerhard ; Braakman, Hilde M.H. ; Haeusler, Martin ; Elbracht, Miriam ; Vaher, Ulvi ; Smol, Thomas ; Lemke, Johannes R. ; Platzer, Konrad ; Kennedy, Joanna ; Klein, Karl Martin ; Au, Ping Yee Billie ; Smyth, Kimberly ; Kaplan, Julie ; Thomas, Morgan ; Dewenter, Malin K. ; Dinopoulos, Argirios ; Campbell, Arthur J. ; Lal, Dennis ; Lederer, Damien ; Liao, Vivian W.Y. ; Ahring, Philip K. ; Møller, Rikke S. ; Gardella, Elena
In Genetics in Medicine March 2022 24(3):681-693
Academic Journal
Hong Joo Kim; Payam Mohassel; Sandra Donkervoort; Lin Guo; Kevin O’Donovan; Maura Coughlin; Xaviere Lornage; Nicola Foulds; Simon R. Hammans; A. Reghan Foley; Charlotte M. Fare; Alice F. Ford; Masashi Ogasawara; Aki Sato; Aritoshi Iida; Pinki Munot; Gautam Ambegaonkar; Rahul Phadke; Dominic G. O’Donovan; Rebecca Buchert; Mona Grimmel; Ana Töpf; Irina T. Zaharieva; Lauren Brady; Ying Hu; Thomas E. Lloyd; Andrea Klein; Maja Steinlin; Alice Kuster; Sandra Mercier; Pascale Marcorelles; Yann Péréon; Emmanuelle Fleurence; Adnan Manzur; Sarah Ennis; Rosanna Upstill-Goddard; Luca Bello; Cinzia Bertolin; Elena Pegoraro; Leonardo Salviati; Courtney E. French; Andriy Shatillo; F. Lucy Raymond; Tobias B. Haack; Susana Quijano-Roy; Johann Böhm; Isabelle Nelson; Tanya Stojkovic; Teresinha Evangelista; Volker Straub; Norma B. Romero; Jocelyn Laporte; Francesco Muntoni; Ichizo Nishino; Mark A. Tarnopolsky; James Shorter; Carsten G. Bönnemann; J. Paul Taylor
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
Academic Journal
Groeneweg, Stefan ; van Geest, Ferdy S ; Abacı, Ayhan ; Alcantud, Alberto ; Ambegaonkar, Gautam P ; Armour, Christine M ; Bakhtiani, Priyanka ; Barca, Diana ; Bertini, Enrico S ; van Beynum, Ingrid M ; Brunetti-Pierri, Nicola ; Bugiani, Marianna ; Cappa, Marco ; Cappuccio, Gerarda ; Castellotti, Barbara ; Castiglioni, Claudia ; Chatterjee, Krishna ; de Coo, Irenaeus F M ; Coutant, Régis ; Craiu, Dana ; Crock, Patricia ; DeGoede, Christian ; Demir, Korcan ; Dica, Alice ; Dimitri, Paul ; Dolcetta-Capuzzo, Anna ; Dremmen, Marjolein H G ; Dubey, Rachana ; Enderli, Anina ; Fairchild, Jan ; Gallichan, Jonathan ; George, Belinda ; Gevers, Evelien F ; Hackenberg, Annette ; Halász, Zita ; Heinrich, Bianka ; Huynh, Tony ; Kłosowska, Anna ; van der Knaap, Marjo S ; van der Knoop, Marieke M ; Konrad, Daniel ; Koolen, David A ; Krude, Heiko ; Lawson-Yuen, Amy ; Lebl, Jan ; Linder-Lucht, Michaela ; Lorea, Cláudia F ; Lourenço, Charles M ; Lunsing, Roelineke J ; Lyons, Greta ; Malikova, Jana ; Mancilla, Edna E ; McGowan, Anne ; Mericq, Veronica ; Lora, Felipe M ; Moran, Carla ; Müller, Katalin E ; Oliver-Petit, Isabelle ; Paone, Laura ; Paul, Praveen G ; Polak, Michel ; Porta, Francesco ; Poswar, Fabiano O ; Reinauer, Christina ; Rozenkova, Klara ; Menevse, Tuba S ; Simm, Peter ; Simon, Anna ; Singh, Yogen ; Spada, Marco ; van der Spek, Jet ; Stals, Milou A M ; Stoupa, Athanasia ; Subramanian, Gopinath M ; Tonduti, Davide ; Turan, Serap ; den Uil, Corstiaan A ; Vanderniet, Joel ; van der Walt, Adri ; Wémeau, Jean-Louis ; Wierzba, Jolante ; de Wit, Marie-Claire Y ; Wolf, Nicole I ; Wurm, Michael ; Zibordi, Federica ; Zung, Amnon ; Zwaveling-Soonawala, Nitash ; Visser, W Edward
In The Lancet Diabetes & Endocrinology July 2020 8(7):594-605
Academic Journal
In Paediatrics and Child Health November 2019 29(11):459-462
Academic Journal
Groeneweg, Stefan ; Peeters, Robin P ; Moran, Carla ; Stoupa, Athanasia ; Auriol, Françoise ; Tonduti, Davide ; Dica, Alice ; Paone, Laura ; Rozenkova, Klara ; Malikova, Jana ; van der Walt, Adri ; de Coo, Irenaeus F M ; McGowan, Anne ; Lyons, Greta ; Aarsen, Femke K ; Barca, Diana ; van Beynum, Ingrid M ; van der Knoop, Marieke M ; Jansen, Jurgen ; Manshande, Martien ; Lunsing, Roelineke J ; Nowak, Stan ; den Uil, Corstiaan A ; Zillikens, M Carola ; Visser, Frank E ; Vrijmoeth, Paul ; de Wit, Marie Claire Y ; Wolf, Nicole I ; Zandstra, Angelique ; Ambegaonkar, Gautam ; Singh, Yogen ; de Rijke, Yolanda B ; Medici, Marco ; Bertini, Enrico S ; Depoorter, Sylvia ; Lebl, Jan ; Cappa, Marco ; De Meirleir, Linda ; Krude, Heiko ; Craiu, Dana ; Zibordi, Federica ; Oliver Petit, Isabelle ; Polak, Michel ; Chatterjee, Krishna ; Visser, Theo J ; Visser, W Edward
In The Lancet Diabetes & Endocrinology September 2019 7(9):695-706
Academic Journal
In Paediatrics and Child Health June 2017 27(6):268-270
Academic Journal
Cornell, Nikki; Childs, Anne-Marie; Wraige, Elizabeth; Munot, Pinki; Ambegaonkar, Gautam; Chow, Gabriel; Hughes, Imelda; Illingworth, Marjorie; Majumdar, Anirban; Marini-Bettolo, Chiara; Parasuraman, Deepak; Spinty, Stefan; Willis, Tracey; Scoto, Mariacristina; Baranello, Giovanni; Peadiat UK Risdiplam
Academic Journal
Stimpson, Georgia; Raquq, Sarah; Chesshyre, Mary; Fewtrell, Mary; Ridout, Deborah; Sarkozy, Anna; Manzur, Adnan; Ayyar Gupta, Vandana; De Amicis, Ramona; Muntoni, Francesco; Baranello, Giovanni; Ambegaonkar, Gautam; Alhaswani, Zoya; Baxter, Alex; Childs, Anne-Marie; Chow, Gabby; De Goede, Christian; Fernandez, Miguel; Gibbon, Frances; Gowda, Vasantha; Guglieri, Michela; Hart, Tony; Hewawitharana, Gemunu; Horrocks, Iain; Hughes, Imelda; Illingworth, Marjorie; Krishnakumar, Deepa; Majumdar, Anirban; Marini-Bettolo, Chiara; Ong, Min; Parasuraman, Deepak; Ramdas, Sithara; Servais, Laurent; Skone, Kate; Spinty, Stefan; Stephens, Elma; Straub, Volker; Tirupathi, Sandya; Thomas, Neil; Willis, Tracey; White, Cathy; Wong, Jarod; Wraige, Elizabeth; Vijayakumar, Kayal; Naismith, Karen
Orphanet Journal of Rare Diseases. January 24, 2022, Vol. 17 Issue 1
Academic Journal
Schon, Katherine; Spasic-Boskovic, Olivera; Brugger, Kim; Graves, Tracey D.; Abbs, Stephen; Park, Soo-Mi; Ambegaonkar, Gautam; Armstrong, Ruth
neurogenetics. January 2017 18(1):49-55
Academic Journal
Paediatrics and Child Health. 23(4):183-186
Academic Journal
McTague, Amy; Nair, Umesh; Malhotra, Sony; Meyer, Esther; Trump, Natalie; Gazina, Elena V.; Papandreou, Apostolos; Ngoh, Adeline; Ackermann, Sally; Ambegaonkar, Gautam; Appleton, Richard; Desurkar, Archana; Eltze, Christin; Kneen, Rachel; Kumar, Ajith V.; Lascelles, Karine; Montgomery, Tara; Ramesh, Venkateswaran; Samanta, Rajib; Scott, Richard H.; Tan, Jeen; Whitehouse, William; Poduri, Annapurna; Scheffer, Ingrid E.; Chong, W.K. “Kling”; Cross, J. Helen; Topf, Maya; Petrou, Steven; Kurian, Manju A.
Neurology. Jan 02, 2018 90(1):e55-e66
Academic Journal
European Journal of Paediatric Neurology. 15(4):316-319
Academic Journal
Archives of Disease in Childhood. Mar 01, 2017 102(3):292-293
Academic Journal
Papandreou, Apostolos; McTague, Amy; Trump, Natalie; Ambegaonkar, Gautam; Ngoh, Adeline; Meyer, Esther; Scott, Richard H; Kurian, Manju A
Developmental Medicine & Child Neurology. Apr 01, 2016 58(4):416-420
Electronic Resource
Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; Foulds, Nicola; Hammans, Simon R; Foley, A Reghan; Fare, Charlotte M; Ford, Alice F; Ogasawara, Masashi; Sato, Aki; Iida, Aritoshi; Munot, Pinki; Ambegaonkar, Gautam; Phadke, Rahul; O'Donovan, Dominic G; Buchert, Rebecca; Grimmel, Mona; Töpf, Ana; Zaharieva, Irina T; Brady, Lauren; Hu, Ying; Lloyd, Thomas E; Klein, Andrea; Steinlin, Maja; Kuster, Alice; Mercier, Sandra; Marcorelles, Pascale; Péréon, Yann; Fleurence, Emmanuelle; Manzur, Adnan; Ennis, Sarah; Upstill-Goddard, Rosanna; Bello, Luca; Bertolin, Cinzia; Pegoraro, Elena; Salviati, Leonardo; French, Courtney E; Shatillo, Andriy; Raymond, F Lucy; Haack, Tobias B; Quijano-Roy, Susana; Böhm, Johann; Nelson, Isabelle; Stojkovic, Tanya; Evangelista, Teresinha; Straub, Volker; Romero, Norma B; Laporte, Jocelyn; Muntoni, Francesco; Nishino, Ichizo; Tarnopolsky, Mark A; Shorter, James; Bönnemann, Carsten G; Taylor, J Paul
nlmid: 101528555; essn: 2041-1723
Academic Journal
Ambegaonkar, Gautam, Dr; Cholidis, Nickolaos, Dr
European Journal of Paediatric Neurology. 21:e35-e35
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