检索结果 - Bregje Jaeger

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  1. 1
    Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience

    Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience 由 Bregje Jaeger, Annet M. Bosch

    出版 2016
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    Revisão
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  2. 2
    Novel Insights Into Gyrate Atrophy of the Choroid and Retina (<scp>GACR</scp>): A Cohort Study

    Novel Insights Into Gyrate Atrophy of the Choroid and Retina (<scp>GACR</scp>): A Cohort Study 由 Berith M. Balfoort, Filip Van den Broeck, Camiel J. F. Boon, Martijn C.G.J. Brouwers, Roselie M.H. Diederen, Preet Dhillon, Peter M. van Hasselt, Bregje Jaeger, Jessica S. Karuntu, Alexander J. Rennings, Francjan J. van Spronsen, Corrie Timmer, Margreet A. E. M. Wagenmakers, Julie De Zaeytijd, Bart P. Leroy, Andreas Schulze, Clara D. van Karnebeek, Marion M. Brands

    出版 2025
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    Artigo
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  3. 3
    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia 由 Maartje Pennings, Meyke Schouten, Judith van Gaalen, Rowdy Meijer, Susanne T. de Bot, Marjolein Kriek, Christiaan G. J. Saris, Leonard H. van den Berg, Michael A. van Es, Dick M. H. Zuidgeest, Mariet W. Elting, Jiddeke M. van de Kamp, Karin Y. van Spaendonck‐Zwarts, Christine de Die‐Smulders, Eva H. Brilstra, Corien Verschuuren, Bert B.A. de Vries, Jacques Bruijn, Kalliopi Sofou, Floor A.M. Duijkers, Bregje Jaeger, Jolanda Schieving, Bart P.C. van de Warrenburg, Erik-Jan Kamsteeg

    出版 2019
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    Artigo
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  4. 4
    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 由 Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcová, Stéphanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Bürglen, Stéphanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Rosa Pisani, Conceição Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Guéden, Omer Bar‐Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago‐Sim, Richard Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong‐Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad Mahdi Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz‐Rogers, Eric W. Klee, David A. Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier González‐Peñas, Ángel Carracedo, Arie van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Héron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, Michael G. Hanna, Enrico Bugiardini, Isabel C. Hostettler, Benjamin O’Callaghan, Alaa Khan, Andrea Cortese, Emer O’Connor, Wai Y. Yau, Thomas Bourinaris, Rauan Kaiyrzhanov, Viorica Chelban, M Madej, Maria C. Diana, Maria S. Vari, Marina Pedemonte, Claudio Bruno, Ganna Balagura, Marcello Scala, Chiara Fiorillo, Lino Nobili, Nancy T. Malintan, M. Natalia Zanetti, Shyam S. Krishnakumar, Gabriele Lignani, James E.C. Jepson, Paolo Broda, Sımona Baldassari, Pia Rossi, Floriana Fruscione, Francesca Madia

    出版 2019
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