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Klinische proeven
A Phase 3, Randomized, International Multicenter Trial of DAY101 Monotherapy Versus Standard of Care Chemotherapy in Patients with Pediatric Low-Grade Glioma Harboring an Activating RAF Alteration Requiring First-Line Systemic Therapy
TENecteplase in Central Retinal Artery Occlusion Study (TenCRAOS): A Randomized Placebo-controlled Trial of Early Systemic Tenecteplase Treatment in Patients With Central Retinal Artery Occlusion.
Open-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients From 6 Months to Less Than 2 Years Old
A Prospective Observational Study of Patients Receiving Dupixent® for Atopic Dermatitis
Wetenschappelijke publicaties
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
Achromatopsie (ACHM) is een erfelijke aandoening van de kegelfotoreceptor die wordt gekenmerkt door het onvermogen om kleuren te onderscheiden, nystagmus, fotofobie,...
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders
Een uitgebreide studie waarbij directe Sanger-sequencing van de gencoderende regio's, exoom- en genoomsequencing wordt toegepast op een groot cohort van...