학술논문
'학술논문'
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1~10
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; Morgia, Chiara La; Paquay, Stéphanie; Nassogne, Marie Cécile; Ghezzi, Daniele; Lamperti, Costanza
Periodical
Töpf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Bönnemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xavière; Löscher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Martí, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O’Donnell-Luria, Anne; Ogonuki, Narumi; O’Grady, Gina L.; O’Heir, Emily; Paquay, Stéphanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; Van den Bergh, Peter; VanNoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; MacArthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
Nature Genetics; March 2024, Vol. 56 Issue: 3 p395-407, 13p
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
Academic Journal
Blickhaeuser, 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, Stephanie; Nassogne, Marie Cecile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas; Prokisch, Holger
Academic Journal
Toepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; van den Bergh, Peter; Vannoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
Academic Journal
Dewulf, Joseph P.; Paquay, Stéphanie; Marbaix, Etienne; Achouri, Younès; Van Schaftingen, Emile; Bommer, Guido T.
Paquay, Stéphanie; Wiame, Elsa; Deggouj, Naima; Boschi, Antonella; De Siati, Romolo Daniele; Sznajer, Yves; Nassogne, Marie-Cécile
In International Journal of Pediatric Otorhinolaryngology January 2018 104:191-194
Academic Journal
Paquay, Stéphanie; Bourillon, Agnès; Pichard, Samia; Benoist, Jean-François; Lonlay, Pascale; Dobbelaere, Dries; Fouilhoux, Alain; Guffon, Nathalie; Rouvet, Isabelle; Labarthe, François; Mention, Karine; Touati, Guy; Valayannopoulos, Vassili; Ogier de Baulny, Hélène; Elmaleh-Bergès, Monique; Acquaviva-Bourdain, Cécile; Vianey-Saban, Christine; Schiff, Manuel
Journal of Inherited Metabolic Disease; May2017, Vol. 40 Issue 3, p415-422, 8p
Academic Journal
Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Koelker, Stefan; Kozich, Viktor; Morris, Andrew A.; Seifert, Burkhardt; Froese, D. Sean; Baumgartner, Matthias R.; Dionisi-Vici, Carlo; Martin, Carlos Alcalde; Baethmann, Martina; Ballhausen, Diana; Blasco-Alonso, Javier; Boy, Nikolas; Bueno, Maria; Burgos Pelaez, Rosa; Cerone, Roberto; Chabrol, Brigitte; Chapman, Kimberly A.; Luz Couce, Maria; Crushell, Ellen; Dalmau Serra, Jaime; Diogo, Luisa; Ficicioglu, Can; Garcia Jimenez, Maria Concepcion; Garcia Silva, Maria Teresa; Gaspar, Ana Maria; Gautschi, Matthias; Gonzalez-Lamuno, Domingo; Gouveia, Sofia; Gruenewald, Stephanie; Hendriksz, Chris; Janssen, Mirian C. H.; Jesina, Pavel; Koch, Johannes; Konstantopoulou, Vassiliki; Lavigne, Christian; Lund, Allan M.; Martins, Esmeralda G.; Meavilla Olivas, Silvia; Mention, Karine; Mochel, Fanny; Mundy, Helen; Murphy, Elaine; Paquay, Stephanie; Pedron-Giner, Consuelo; Ruiz Gomez, Maria Angeles; Santra, Saikat; Schiff, Manuel; Schwartz, Ida Vanessa; Scholl-Buergi, Sabine; Servais, Aude; Skouma, Anastasia; Tran, Christel; Vives Pinera, Inmaculada; Walter, John; Weisfeld-Adams, James; EHOD Consortium
Academic Journal
Paquay, Stephanie; Benoit, Valerie; Wetzburger, Catherine; Cordonnier, Monique; Meire, Francoise; Charon, Anne; Roland, Dominique; Van Coster, Rudy; Nassogne, Marie-Cecile; Maystadt, Isabelle
Academic Journal
Harbulot, Carole; Paquay, Stephanie; Dorboz, Imen; Pichard, Samia; Bourillon, Agnes; Benoist, Jean-Francois; Jardel, Claude; de Baulny, Helene Ogier; Boespflug-Tanguy, Odile; Schiff, Manuel
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