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Research Interests

Papers共 85 篇Author StatisticsCo-AuthorSimilar Experts

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Key Lessons from the First International Treatment Eligibility Committee: the Case of Metachromatic Leukodystrophy
Daphne H Schoenmakers, Marije A B C Asbreuk, Tamara Martin, Mareen Datema,Shanice Beerepoot, Michal Inbar-Feigenberg, Samuel Groeschel,Christiane Kehrer, Andreas Øberg,Caroline Sevin,Francesca Fumagalli, Caroline G Bergner, Päivi Vieira,Annette Bley, Johanna Uusimaa, Morten Andreas Horn, Klára Brožová, Eva Stögmann, Herbert Pichler, Roswitha Lüftinger,Erik A Eklund,Fanny Mochel, Laura A Adang, Lucia Laugwitz, Jaap Jan Boelens,Valeria Calbi, Alejandra Darling,Ángeles García-Cazorla, Sabine W Grønborg,Caroline A Lindemans,Peter M van Hasselt,Carla E M Hollak,Tom J de Koning, Dipak Ram, Hanka Dekker,Ludger Schöls, Ayelet Zerem,Holm Graessner,Nicole I Wolf
European journal of paediatric neurology EJPN official journal of the European Paediatric Neurology Society (2025): 72-81
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Autosomal Dominant HK1-related Neurodevelopmental Disorder with Visual Defects and Brain Anomalies (NEDVIBA): an Emerging Mitochondrial Disorder
Bobby G Ng,Erik A Eklund, Jill A Rosenfeld,Abdallah F Elias, Aya Abu-El-Haija,Celine Bris,Magalie Barth,Jong-Hee Chae,Murim Choi, Holly A Dubbs,Carl Fratter,Nicola Foulds,Candace Gamble,Ralitza H Gavrilova, Jaclyn Haven, Trevor L Hoffman,Jill V Hunter,Austin Larson, Timothy Edward Lotze, Pilar Magoulas, Emily C Magness, Debra M Bootin, Eric D Marsh, Victoria Nesbitt, Matthew T Pastore, Joanna Poulton,Shamima Rahman,Fernando Scaglia, Chaya Murali, Jennifer Posey,Joshua Rotenberg, Betsy Schmalz,Deepali N Shinde, Zöe Powis, Rivka Sukenik-Halevy, Kristen V Truxal, Tami Uster, Matheus Vernet Machado Bressan Wilke, Erik Klee,Hyewon Woo, Donald Younkin, Jianhua Zhao, Jorge Granadillo, Seema Lalani,David Chitayat, Wendy K Chung, Hudson H Freeze, Volkan Okur
Genetics in medicine open (2025): 103425-103425
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Author Statistics

#Papers: 85

#Citation: 1678

H-Index: 21

G-Index: 40

Sociability: 6

Diversity: 3

Activity: 20

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