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GMS Ophthalmology Cases, Vol 9, p Doc37 (2019)
Academic Journal
In Molecular Genetics and Metabolism September-October 2024 143(1-2)
Academic Journal
Wilson, Matthew P.; Kentache, Takfarinas; Althoff, Charlotte R.; Schulz, Céline; de Bettignies, Geoffroy; Mateu Cabrera, Gisèle; Cimbalistiene, Loreta; Burnyte, Birute; Yoon, Grace; Costain, Gregory; Vuillaumier-Barrot, Sandrine; Cheillan, David; Rymen, Daisy; Rychtarova, Lucie; Hansikova, Hana; Bury, Marina; Dewulf, Joseph P.; Caligiore, Francesco; Jaeken, Jaak; Cantagrel, Vincent; Van Schaftingen, Emile; Matthijs, Gert; Foulquier, François; Bommer, Guido T.
In Cell 11 July 2024 187(14):3585-3601
Academic Journal
Cirnigliaro, Lara; Pettinato, Fabio; Valle, Maria Stella; Casabona, Antonino; Fiumara, Agata; Vecchio, Michele; Amico, Valerio; Rizzo, Renata; Jaeken, Jaak; Barone, Rita; Cioni, Matteo
Academic Journal
Sturiale, Luisa; Nassogne, Marie-Cécile; Palmigiano, Angelo; Messina, Angela; Speciale, Immacolata; Artuso, Rosangela; Bertino, Gaetano; Revencu, Nicole; Stephénne, Xavier; De Castro, Cristina; Matthijs, Gert; Barone, Rita; Jaeken, Jaak; Garozzo, Domenico
In iScience 23 April 2021 24(4)
Academic Journal
Quelhas, Dulce; Martins, Esmeralda; Azevedo, Luísa; Bandeira, Anabela; Diogo, Luísa; Garcia, Paula; Sequeira, Sílvia; Ferreira, Ana Cristina; Teles, Elisa Leão; Rodrigues, Esmeralda; Fortuna, Ana Maria; Mendonça, Carla; Fernandes, Helena Cabral; Medeira, Ana; Gaspar, Ana; Janeiro, Patrícia; Oliveira, Anabela; Laranjeira, Francisco; Ribeiro, Isaura; Souche, Erica; Race, Valérie; Keldermans, Liesbeth; Matthijs, Gert; Jaeken, Jaak
In The Journal of Pediatrics April 2021 231:148-156
Academic Journal
Kariminejad, Ariana; Shakiba, Marjan; Shams, Mehrvash; Namiranian, Parva; Eghbali, Maryam; Talebi, Said; Makvand, Mina; Jaeken, Jaak; Najmabadi, Hossein; Hennekam, Raoul C.
In European Journal of Medical Genetics March 2021 64(3)
Academic Journal
Francisco, Rita; Brasil, Sandra; Poejo, Joana; Jaeken, Jaak; Pascoal, Carlota; Videira, Paula A.; dos Reis Ferreira, Vanessa
Academic Journal
Monticelli, Maria; D'Onofrio, Tania; Jaeken, Jaak; Morava, Eva; Andreotti, Giuseppina; Cubellis, Maria Vittoria
Academic Journal
Péanne, Romain; de Lonlay, Pascale; Foulquier, François; Kornak, Uwe; Lefeber, Dirk J.; Morava, Eva; Pérez, Belén; Seta, Nathalie; Thiel, Christian; Van Schaftingen, Emile; Matthijs, Gert; Jaeken, Jaak
In European Journal of Medical Genetics November 2018 61(11):643-663
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