Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis Graphical abstract ARTICLE Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression an
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability , hypotonia , and epilepsy Authors ARTICLE Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual
Desensitization protocol to lenalidomide : An effective and safe treatment modality for delayed hypersensitivity-induced rash in patients with multiple myeloma
Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis ( RAISE ): a randomised , double-blind , placebo-controlled , phase 3 study
Luspatercept in combination with recombinant erythropoietin in patients with myelodysplastic syndrome with ring sideroblasts : Stimulating early and late-stage erythropoiesis
Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis ( MycarinG ): a randomised , double-blind , placebo-controlled , adaptive phase 3 study
Increasing incidence rate of breast cancer in cystic fibrosis - relationship between pathogenesis , oncogenesis and prediction of the treatment effect in the context of worse clinical outcome and prognosis of cystic fibrosis due to estrogens
Towards development of treat to target (T2T) in childhood-onset systemic lupus erythematosus: PReS-endorsed overarching principles and points-to-consider from an international task force
The German version of the neurofibromatosis 2 impact on quality of life questionnaire correlates with severity of depression and physician ‑ reported disease severity
Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences , emotional state , self ‑ perception and quality of life in adults : a systematic review
The psychosocial situation of families caring for children with rare diseases during the COVID ‑ 19 pandemic : results of a cross ‑ sectional online survey
