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Journal of Inherited Metabolic Disease|December 4, 2023
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduriaSonam Gurung, Saketh Karamched, Dany Perocheau, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|April 24, 2024
NECTIN4 Amplification Is Frequent in Solid Tumors and Predicts Enfortumab Vedotin Response in Metastatic Urothelial CancerNiklas Klümper, Ngoc Khanh Tran, Stefanie Zschäbitz, et al.Journal of Physics D: Applied Physics|February 26, 2019
The 2018 correlative microscopy techniques roadmapToshio Ando, Satya Prathyusha Bhamidimarri, Niklas Brending, et al.Frontiers in Genetics|March 1, 2024
Brain function in classic galactosemia, a galactosemia network (GalNet) members reviewBianca Panis, E Naomi Vos, Ivo Barić, et al.Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disordersJoachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.Orphanet Journal of Rare Diseases|April 29, 2019
The natural history of classic galactosemia: lessons from the GalNet registryM E Rubio-Gozalbo, M Haskovic, A M Bosch, et al.Nature|April 8, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disordersJoachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.Circulation. Arrhythmia and Electrophysiology|February 16, 2021
Arrhythmias in Cardiac Sarcoidosis Bench to Bedside: A Case-Based ReviewLynda E Rosenfeld, Mina K Chung, Clifford V Harding, et al.Frontiers in Medicine|December 4, 2023
Assessment of the ABC2-SPH risk score to predict invasive mechanical ventilation in COVID-19 patients and comparison to other scoresChristiane Corrêa Rodrigues Cimini, Polianna Delfino-Pereira, Magda Carvalho Pires, et al.Brain : a Journal of Neurology|February 5, 2010
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorderWilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, et al.Pageof 148