학술논문
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'학술논문'
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1~20
Academic Journal
Bénédicte Brichard; Manon Le Roux; Brigitte de Terwangne; Dominique Bellis; Nathalie Crasselts; Marie Cécile Nassogne; Catheline Hocq
BMC Palliative Care, Vol 24, Iss 1, Pp 1-8 (2025)
Book
A Practice of Anesthesia for Infants and Children. :619-649
Academic Journal
Ferriani, Alberto; Rossi, Alessandro; Lund, Allan; Husaineid, Amani; Torkar, Ana Drole; Haijer-Schreuder, Andrea; Hugon, Anne; Mei-Kwun Kwok, Anne; Stone-Schneider, Blaire; Boelens, Boelo G.F.D.; Carøe, Camilla; Rosano, Carmen; Moura De Souza, Carolina Fischinger; Cohen, Damian; Rodriguez-Buritica, David; Goldman, Deberah; Boss-Lagerwaard, Denise; Contreras, Enrique Lande; Ezgu, Fatih; van Eenennaam, Fred; Vanneste, Frédéric; Withaar, Frederiec K.; Temkin, Gayle W.; Dekker, Hanka; Saavedra, Heather; Mundy, Helen; Schwartz, Ida; Ferrecchia, Iris; LaFreniere, Jamas; Šaligová, Jana; Mitchell, John; Sallago, Julieta Bonvin; Ouellette, Katie; Meszes, Klaudia; Engelbrecht, Louise; Diogo, Luisa; Reyes-Apodaca, Magali; Mount, Malaya; Makdisse, Marcia; Landgren, Marcus; León, María Clemente; Nassogne, Marie-Cécile; Fokkert-Wilts, Marieke; Dixon, Marjorie; van der Klauw, Melanie M.; Yekedüz, Merve Koç; Borhan, Mirela Adriana; Williams, Monika; Maldonado, Nerea López; Janeiro, Patricia; Perez Mohand, Patricia Pilar; Kishnani, Priya S.; Singh, Rani; Halligan, Rebecca; Koch, Rebecca; Riba-Wolman, Rebecca; Santer, René; Overduin, Ruben J.; Grünert, Sarah C.; Buijs, Steven; Bijarnia-Mahay, Sunita; Derks, Terry G.J.; Casswall, Thomas; Stachelhaus-Theimer, Ute; Kang, Yunkoo; Haijer-Schreuder, Andrea B. ; Contreras, Enrique L. ; Stone-Schneider, Blair ; Fokkert-Wilts, Marieke J. ; Weinstein, David A.
In Genetics in Medicine December 2025 27(12)
Academic Journal
Nawale Hadouiri; Lidiane Pereira Garcia; Romain Baudat; Paloma Parra-Díaz; Antonio Gil-Nagel Rein; Isabel Del Pino; Sandra Whalen; Sarah Grotto; Theresa Brunet; Melanie Brugger; Dana Marafi; Katharina Vill; Damien Lederer; Deniz Karadurmus; Julie Desir; Marie Cécile Nassogne; Maud Favier; Siddharth Srivastava; Elise Brischoux Boucher; Jonathan Levy; Dana Young; Gabriella Horvath; Isabelle Marey; Klaus Dieterich; Chiara Fiorillo; Heike Weigand; Nora Hannane; Amelle Shillington; Lila Stange; Aditi Dagli; Emanuela Argilli; Carolyn Le; Elliott H. Sherr; Bo Hoon Lee; Ryan W Gates; Isabelle Maystadt; Marie Deprez; Gaetan Lesca; Gilles Rode; Valentin Ruault; Luca Soliani; Evamaria Lanzarini; Alison J. Eaton; François D. Morneau-Jacob; Gillian Prinzing; Annapurna Poduri; Stephanie Sacharow; Stephen R. Chorney; Elisa Rahikkala; Vasileiou Georgia; André Reis; Melissa Pauly; Ulrike Huffmeier; Cornelia Kraus; Christopher P. Barnett; Hamish S Scott; Daniel Calame; Jeremy A. Tanner; Egidio Spinelli; Frédéric Tran Mau-Them; Mathieu Gueugnon; François Lebeaupin; Antonio Vitobello; Laurence Faivre; Philippe Lory; Christel Thauvin-Robinet; Arnaud Monteil
Academic Journal
Al Sabti, Michaela ; Anderson, Katherine J. ; Baghdasaryan, Anna ; Bélanger-Quintana, Amaya ; Bourque, Danielle K. ; Boyer, Monica ; Bzdúch, Vladímír ; Casswall, Thomas ; Çoker, Mahmut ; Uçar, Sema Kalkan ; De Leon, Diva D. ; Heras, Javier De Las ; Diogo, Luisa ; Milosevic, Maja Djordjevic ; Engelbrecht, Louise ; Fazio, Timothy ; Feillet, François ; Gautschi, Matthias ; Grammatikopoulos, Tassos ; Groselj, Urh ; Haas, Dorothea ; Häberle, Johannes ; Hochuli, Michel ; Huemer, Martina ; Janeiro, Patricia ; Kang, Yunkoo ; Karall, Daniela ; Kasapkara, Çiğdem Seher ; Kaur, Shagun ; Kwok, Anne Mei-Kwun ; Labrune, Phillippe ; La Rosa, Alessandro ; Landau, Yuval E. ; Longo, Nicola ; Lotz-Havla, Amelie S. ; Lund, Allan ; Maiorana, Arianna ; Martín-Hernández, Elena ; Mitchell, John J. ; Möslinger, Dorothea ; Nassogne, Marie-Cecile ; Neugebauer, Julia ; Park, Julien H. ; Parnarauskienė, Justė ; Pérez-Mohand, Patricia ; Procopio, Elena ; Reyes-Apodaca, Magali ; Santer, René ; Sapuppo, Annamaria ; Scholl-Bürgi, Sabine ; Scherer, Thomas ; Shayota, Brian J. ; Skouma, Anastasia ; Sreekantam, Srividya ; Steuerwald, Ulrike ; Thimm, Eva ; Moreno, Eva Venegas ; Weinstein, David A. ; Williams, Monika ; Witters, Peter ; Wortmann, Saskia B. ; Zeman, Jiří ; Zsidegh, Petra ; Grünert, Sarah C. ; Derks, Terry G.J. ; Rossi, Alessandro
In Molecular Genetics and Metabolism July 2025 145(3)
Academic Journal
Donge, Mylène; Marie, Sandrine; Pochet, Amandine; Marcelis, Lionel; Luis, Geraldine; Boemer, François; Prouteau, Clément; Mesli, Samir; Cuykx, Matthias; Nguyen-Khoa, Thao; Guénet, David; Empain, Aurélie; Barth, Magalie; Dauriat, Benjamin; Laroche-Raynaud, Cécile; De Laet, Corinne; Verloo, Patrick; Jonckheere, An I.; Schiff, Manuel; Nassogne, Marie-Cécile; Dewulf, Joseph P.
International Journal of Neonatal Screening. September, 2025, Vol. 11 Issue 3
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
Academic Journal
Blickhäuser, Beryll; Stenton, Sarah L; Neuhofer, Christiane M; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A; McFarland, Robert; Fang, Fang; La Morgia, Chiara; Paquay, Stéphanie; Nassogne, Marie Cécile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas; Prokisch, Holger
Brain
Brain 147(6), 1967-1974 (2024). doi:10.1093/brain/awae057
Brain, 147, 6, pp. 1967-1974
Brain, Vol. 147, no.6, p. 1967-1974 (2024)
Brain 147, 1967-1974 (2024)
Brain 147(6), 1967-1974 (2024). doi:10.1093/brain/awae057
Brain, 147, 6, pp. 1967-1974
Brain, Vol. 147, no.6, p. 1967-1974 (2024)
Brain 147, 1967-1974 (2024)
Academic Journal
Everard, Emilie; Laeremans, Hilde; Boemer, François; Marie, Sandrine; Vincent, Marie-Françoise; Dewulf, Joseph P.; Debray, François-Guillaume; De Laet, Corinne; Nassogne, Marie-Cécile
Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric, (2024)
Academic Journal
European Journal of Paediatric Neurology, Vol. 48, p. 69)77 (2024)
Academic Journal
Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Ljungdahl, Alicia; Stenton, Sarah L.; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra C.; Ganesh, Vijay S.; Ma, Jialan; Ellingford, Jamie M.; Delage, Erwan; D’Souza, Elston N.; Dong, Shan; Adams, David R.; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E.; Berger, Seth I.; Bernstein, Jonathan A.; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha J.; Burrage, Lindsay C.; Chapman, Kimberly; Coman, David J.; Compton, Alison G.; Cunningham, Chloe A.; D’Souza, Precilla; Danecek, Petr; Délot, Emmanuèle C.; Dias, Kerith-Rae; Elias, Ellen R.; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L.; Gallacher, Lyndon; Genetti, Casie A.; Goriely, Anne; Grant, Christina L.; Haack, Tobias; Higgs, Jenny E.; Hinch, Anjali G.; Hurles, Matthew E.; Kuechler, Alma; Lachlan, Katherine L.; Lalani, Seema R.; Lecoquierre, François; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J.; Liebelt, Jan E.; Lindsay, Sarah; Lockhart, Paul J.; Ma, Alan S.; Macnamara, Ellen F.; Mansour, Sahar; Maurer, Taylor M.; Mendez, Hector R.; Metcalfe, Kay; Montgomery, Stephen B.; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; O’Donoghue, Michael; O’Leary, Melanie; Palmer, Elizabeth E.; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L.; Reuter, Chloe M.; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A.; Sachdev, Rani; Shaw-Smith, Charles J.; Simons, Cas; Sisodiya, Sanjay M.; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen S.; Tan, Tiong Yang; Tan, Natalie B.; Temple, Suzanna E. L.; Thorburn, David R.; Tifft, Cynthia J.; Uebergang, Eloise; VanNoy, Grace E.; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David H.; Wedd, Laura; Wheeler, Matthew T.; White, Susan M.; Wojcik, Monica; Wolfe, Lynne A.; Wolfenson, Zoe; Wright, Caroline F.; Xiao, Changrui; Zocche, David; Rubenstein, John L.; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M.; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G.; Howson, Joanna M. M.; Sanders, Stephan J.; O’Donnell-Luria, Anne; Whiffin, Nicola
Nature: International weekly journal of science. 632(8026):832-840
Academic Journal
Panagiotakaki, Eleni; Tiziano, Francesco D; Mikati, Mohamad A; Vijfhuizen, Lisanne S; Nicole, Sophie; Lesca, Gaetan; Abiusi, Emanuela; Novelli, Agnese; Di Pietro, Lorena; I.B.AHC Consortium; IAHCRC Consortium; Harder, Aster V E; Walley, Nicole M; De Grandis, Elisa; Poulat, Anne-Lise; Portes, Vincent Des; Lépine, Anne; Nassogne, Marie-Cécile; Arzimanoglou, Alexis; Vavassori, Rosaria; Koenderink, Jan; Thompson, Christopher H; George, Alfred L; Gurrieri, Fiorella; van den Maagdenberg, Arn M J M; Heinzen, Erin L
European journal of human genetics, Vol. 32, no.2, p. 224-231 (2024)
Academic Journal
Grünert, Sarah C. ; Gautschi, Matthias ; Baker, Joshua ; Boyer, Monica ; Burlina, Alberto ; Casswall, Thomas ; Corpeleijn, Willemijn ; Çıki, Kismet ; Cotter, Melanie ; Crushell, Ellen ; Derks, Terry G.J. ; Haas, Dorothea ; Kilavuz, Sebile ; Kingma, Sandra D.K. ; Korman, Stanley H. ; Kozek, Anne ; de Laet, Corinne ; Mundy, Helen ; Nassogne, Marie Cecile ; Quintero, Victor ; Rossi, Alessandro ; Spenger, Johannes ; Spiegel, Ronen ; Stephenne, Xavier ; Stojkov, Darko ; Tal, Galit ; Veiga-da Cunha, Maria ; Wortmann, Saskia B.
In Molecular Genetics and Metabolism June 2024 142(2)
Academic Journal
Jacobs Sariyar, Aurélie; Van Pesch, Vincent; Nassogne, Marie-Cécile; Moniotte, Stéphane; Momeni, Mona
European journal of pediatrics, Vol. 182, no. 5, p. 1941-1948 (2023)
Academic Journal
Maia, Nuno; Potelle, Sven; Yildirim, Hamide; Duvet, Sandrine; Akula, Shyam K.; Schulz, Celine; Wiame, Elsa; Gheldof, Alexander; O’kane, Katherine; Lai, Abbe; Sermon, Karen; Proisy, Maïa; Loget, Philippe; Attié-Bitach, Tania; Quelin, Chloé; Fortuna, Ana Maria; Soares, Ana Rita; de Brouwer, Arjan P.M.; van Schaftingen, Emile; Nassogne, Marie-Cécile; Walsh, Christopher A.; Stouffs, Katrien; Jorge, Paula; Jansen, Anna C.; Foulquier, Francois
Am J Hum Genet
American Journal of Human Genetics, 109, 2, pp. 345-360
American journal of human genetics, Vol. 109, no. 2, p. 345-360 (2022)
American Journal of Human Genetics, 109, 2, pp. 345-360
American journal of human genetics, Vol. 109, no. 2, p. 345-360 (2022)
Academic Journal
von Wintzingerode, Lydia ; Ben-Zeev, Bruria ; Cesario, Claudia ; Chan, Katie M. ; Depienne, Christel ; Elpeleg, Orly ; Iascone, Maria ; Kelley, Whitley V. ; Nassogne, Marie-Cécile ; Niceta, Marcello ; Pezzani, Lidia ; Rahner, Nils ; Revencu, Nicole ; Bekheirnia, Mir Reza ; Santiago-Sim, Teresa ; Tartaglia, Marco ; Thompson, Michelle L. ; Trivisano, Marina ; Hentschel, Julia ; Sticht, Heinrich ; Abou Jamra, Rami ; Oppermann, Henry
In Genetics in Medicine July 2023 25(7)
Academic Journal
Molecular genetics and metabolism, Vol. 136, no.3, p. 190-198 (2022)
Molecular genetics and metabolism, Vol. 136, no. 3, p. 190-198 (2022)
Molecular genetics and metabolism, Vol. 136, no. 3, p. 190-198 (2022)
Academic Journal
Yuyang Chen; Ruebena Dawes; Hyung Chul Kim; Sarah L Stenton; Susan Walker; Alicia Ljungdahl; Jenny Lord; Vijay S Ganesh; Jialan Ma; Alexandra C Martin-Geary; Gabrielle Lemire; Elston N D’Souza; Shan Dong; Jamie M Ellingford; David R Adams; Kirsten Allan; Madhura Bakshi; Erin E Baldwin; Seth I Berger; Jonathan A Bernstein; Natasha J Brown; Lindsay C Burrage; Kimberly Chapman; Alison G Compton; Chloe A Cunningham; Precilla D’Souza; Emmanuèle C Délot; Kerith-Rae Dias; Ellen R Elias; Carey-Anne Evans; Lisa Ewans; Kimberly Ezell; Jamie L Fraser; Lyndon Gallacher; Casie A Genetti; Christina L Grant; Tobias Haack; Alma Kuechler; Seema R Lalani; Elsa Leitão; Anna Le Fevre; Richard J Leventer; Jan E Liebelt; Paul J Lockhart; Alan S Ma; Ellen F Macnamara; Taylor M Maurer; Hector R Mendez; Stephen B Montgomery; Marie-Cécile Nassogne; Serena Neumann; Melanie O’Leary; Elizabeth E Palmer; John Phillips; Georgia Pitsava; Ryan Pysar; Heidi L Rehm; Chloe M Reuter; Nicole Revencu; Angelika Riess; Rocio Rius; Lance Rodan; Tony Roscioli; Jill A Rosenfeld; Rani Sachdev; Cas Simons; Sanjay M Sisodiya; Penny Snell; Laura St Clair; Zornitza Stark; Tiong Yang Tan; Natalie B Tan; Suzanna EL Temple; David R Thorburn; Cynthia J Tifft; Eloise Uebergang; Grace E VanNoy; Eric Vilain; David H Viskochil; Laura Wedd; Matthew T Wheeler; Susan M White; Monica Wojcik; Lynne A Wolfe; Zoe Wolfenson; Changrui Xiao; David Zocche; John L Rubenstein; Eirene Markenscoff-Papadimitriou; Sebastian M Fica; Diana Baralle; Christel Depienne; Daniel G MacArthur; Joanna MM Howson; Stephan J Sanders; Anne O’Donnell-Luria; Nicola Whiffin
medRxiv
Chen, Y, Dawes, R, Kim, H C, Stenton, S L, Walker, S, Ljungdahl, A, Lord, J, Ganesh, V S, Ma, J, Martin-Geary, A C, Lemire, G, D'Souza, E N, Dong, S, Ellingford, J M, Adams, D R, Allan, K, Bakshi, M, Baldwin, E E, Berger, S I, Bernstein, J A, Brown, N J, Burrage, L C, Chapman, K, Compton, A G, Cunningham, C A, D'Souza, P, Délot, E C, Dias, K-R, Elias, E R, Evans, C-A, Ewans, L, Ezell, K, Fraser, J L, Gallacher, L, Genetti, C A, Grant, C L, Haack, T, Kuechler, A, Lalani, S R, Leitão, E, Fevre, A L, Leventer, R J, Liebelt, J E, Lockhart, P J, Ma, A S, Macnamara, E F, Maurer, T M, Mendez, H R, Montgomery, S B,Nassogne , M-C, Neumann, S, O'Leary, M, Palmer, E E, Phillips, J, Pitsava, G, Pysar, R, Rehm, H L, Reuter, C M, Revencu, N, Riess, A, Rius, R, Rodan, L, Roscioli, T, Rosenfeld, J A, Sachdev, R, Simons, C, Sisodiya, S M, Snell, P, Clair, L S, Stark, Z, Tan, T Y, Tan, N B, Temple, S E, Thorburn, D R, Tifft, C J, Uebergang, E, VanNoy, G E, Vilain, E, Viskochil, D H, Wedd, L, Wheeler, M T, White, S M, Wojcik, M, Wolfe, L A, Wolfenson, Z, Xiao, C, Zocche, D, Rubenstein, J L, Markenscoff-Papadimitriou, E, Fica, S M, Baralle, D, Depienne, C, MacArthur, D G, Howson, J M, Sanders, S J, O'Donnell-Luria, A & Whiffin, N 2024, 'De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.', medRxiv. https://doi.org/10.1101/2024.04.07.24305438
Chen, Y, Dawes, R, Kim, H C, Stenton, S L, Walker, S, Ljungdahl, A, Lord, J, Ganesh, V S, Ma, J, Martin-Geary, A C, Lemire, G, D'Souza, E N, Dong, S, Ellingford, J M, Adams, D R, Allan, K, Bakshi, M, Baldwin, E E, Berger, S I, Bernstein, J A, Brown, N J, Burrage, L C, Chapman, K, Compton, A G, Cunningham, C A, D'Souza, P, Délot, E C, Dias, K-R, Elias, E R, Evans, C-A, Ewans, L, Ezell, K, Fraser, J L, Gallacher, L, Genetti, C A, Grant, C L, Haack, T, Kuechler, A, Lalani, S R, Leitão, E, Fevre, A L, Leventer, R J, Liebelt, J E, Lockhart, P J, Ma, A S, Macnamara, E F, Maurer, T M, Mendez, H R, Montgomery, S B,
Academic Journal
Yeboah Kofi Gyening; Keren Boris; Mignot Cyril; Richard S. Brush; Marie-Cécile Nassogne; Martin-Paul Agbaga
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-10 (2023)
Academic Journal
In European Journal of Medical Genetics February 2023 66(2)
Academic Journal
Yverneau, Mathilde; Leroux, Stéphanie; Imbard, Apolline; Gleich, Florian; Arion, Alina; Moreau, Caroline; Nassogne, Marie-Cécile; Szymanowski, Marie; Tardieu, Marine; Touati, Guy; Bueno, María; Chapman, Kimberly A; Chien, Yin-Hsiu; Huemer, Martina; Ješina, Pavel; Janssen, Mirian C H; Kölker, Stefan; Kožich, Viktor; Lavigne, Christian; Lund, Allan Meldgaard; Mochel, Fanny; Morris, Andrew; Pons, Mónica Ruiz; Porras-Hurtado, Gloria Liliana; Benoist, Jean-François; Damaj, Léna; Schiff, Manuel; E-HOD Consortium
RISalud-ANDALUCIA. Repositorio Institucional de Salud de Andalucía
instname
Journal of Inherited Metabolic Disease, 45, 4, pp. 848-861
Journal of inherited metabolic disease, Vol. 45, no.4, p. 848-861 (2022)
E-HOD Consortium 2022, ' Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency ', Journal of Inherited Metabolic Disease, vol. 45, no. 4, pp. 848-861 . https://doi.org/10.1002/jimd.12504
instname
Journal of Inherited Metabolic Disease, 45, 4, pp. 848-861
Journal of inherited metabolic disease, Vol. 45, no.4, p. 848-861 (2022)
E-HOD Consortium 2022, ' Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency ', Journal of Inherited Metabolic Disease, vol. 45, no. 4, pp. 848-861 . https://doi.org/10.1002/jimd.12504
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[검색어] Nassogne, Marie-Cécile
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