- ORA - Oxford University Research Archive Search Results

15131

Journal article

Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation

vanden Brande, L, Bauché, S, Pérez‐Guàrdia, L, et al.
2024-01-21

15132

Journal article

First regulatory qualification of a digital primary endpoint to measure treatment efficacy in DMD

Servais, L, Eggenspieler, D, Poleur, M, et al.
2023-10-09

15133

Journal article

Clinical and genetic features of patients suffering from CMT4J

Beloribi-Djefaflia, S, Morales, RJ, Fatehi, F, et al.
2023-11-11

15134

Journal article

Bat detective—Deep learning tools for bat acoustic signal detection

Mac Aodha, O, Gibb, R, Barlow, KE, et al.
2018-03-08

15135

Journal article

Survival outcomes of ERBB2-amplified metastatic colorectal cancer treated with first-line chemotherapy

Matsubara, Y, Bando, H, Nakamura, Y, et al.
2025-12-08

15136

Journal article

Therapeutic vaccination following early antiretroviral therapy elicits highly functional T cell responses against conserved HIV-1 regions

Kopycinski, J, Yang, H, Hancock, G, et al.
2023-10-11

15137

Journal article

Comprehensive cardiac magnetic resonance imaging and spectroscopy reveals a high burden of myocardial disease in HIV infection

Holloway, C, Ntusi, N, Suttie, J, et al.
2013-01-30

15138

Journal article

Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium

Dangouloff, T, Thokala, P, Stevenson, MD, et al.
2023-12-02

15139

Journal article

Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Mercuri, E, Vilchez, JJ, Boespflug-Tanguy, O, et al.
2024-03-18

15140

Journal article

New WHO classification of genetic variants causing G6PD deficiency

Luzzatto, L, Bancone, G, Dugué, P-A, et al.
2024-08-01

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