학술논문
'학술논문'
에서 검색결과 32건 | 목록
1~10
Academic Journal
Lara Cirnigliaro; Fabio Pettinato; Maria Stella Valle; Antonino Casabona; Agata Fiumara; Michele Vecchio; Valerio Amico; Renata Rizzo; Jaak Jaeken; Rita Barone; Matteo Cioni
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Academic Journal
Dulce Quelhas; Sandra D.K. Kingma; An I. Jonckheere; Claudia S. Smeets-Peels; Daniel Costa Gomes; José Duro; Anabela Oliveira; Gert Matthijs; Laura K.M. Steinbusch; Jaak Jaeken; Isabel Rivera; Estela Rubio-Gozalbo
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101057- (2024)
Academic Journal
Rita Francisco; Sandra Brasil; Joana Poejo; Jaak Jaeken; Carlota Pascoal; Paula A. Videira; Vanessa dos Reis Ferreira
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Academic Journal
Maria Monticelli; Tania D’Onofrio; Jaak Jaeken; Eva Morava; Giuseppina Andreotti; Maria Vittoria Cubellis
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-19 (2023)
Academic Journal
Ruqaiah Altassan; Dimpna C. Albert‐Brotons; Mohammad Alowain; Zohair Al‐Halees; Jaak Jaeken; Eva Morava
JIMD Reports, Vol 64, Iss 2, Pp 123-128 (2023)
Academic Journal
Maria Monticelli; Rita Francisco; Sandra Brasil; Dorinda Marques-da-Silva; Tatiana Rijoff; Carlota Pascoal; Jaak Jaeken; Paula A. Videira; Vanessa dos Reis Ferreira
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-16 (2022)
Academic Journal
Rita Francisco; Sandra Brasil; Carlota Pascoal; Jaak Jaeken; Merell Liddle; Paula A. Videira; Vanessa dos Reis Ferreira
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-18 (2022)
Academic Journal
Matthew P. Wilson; Dulce Quelhas; Elisa Leão‐Teles; Luisa Sturiale; Daisy Rymen; Liesbeth Keldermans; Valérie Race; Erika Souche; Esmeralda Rodrigues; Teresa Campos; Emile Van Schaftingen; François Foulquier; Domenico Garozzo; Gert Matthijs; Jaak Jaeken
JIMD Reports, Vol 58, Iss 1, Pp 122-128 (2021)
Academic Journal
Peter Witters; Hans Andersson; Jaak Jaeken; Laura Tseng; Clara D. M. van Karnebeek; Dirk J. Lefeber; David Cassiman; Eva Morava
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-5 (2021)
Academic Journal
Clinical Case Reports, Vol 10, Iss 2, Pp n/a-n/a (2022)
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[AR] Jaak Jaeken
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