Disease: Nathalie syndrome
- Autism Spectrum Disorder and Epilepsy
- Brown-Vialetto-Van Laere syndrome
- Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome
- Corrigendum to "The long-acting C5 inhibitor, ravulizumab, is effective and safe in pediatric patients with atypical hemolytic uremic syndrome naïve to complement inhibitor treatment." Kidney Int. 2021;100:225-237
- Fetal Muse-based therapy prevents lethal radio-induced gastrointestinal syndrome by intestinal regeneration
- Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa
- Generation of induced pluripotent stem cells (iPSCs) from a microvillus inclusion disease patient with a homozygous missense mutation in UNC45A
- Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
- Heart involvement in systemic lupus erythematosus and antiphospholipid syndrome
- Incidence, prevalence, and co-occurrence of autoimmune disorders over time and by age, sex, and socioeconomic status: a population-based cohort study of 22 million individuals in the UK
- Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study
- Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome
- Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome
- Multisystem inflammatory syndrome in 1.2 million children: longitudinal cohort study of risk factors
- Multisystem inflammatory syndrome in adults: Comparison with other inflammatory conditions during the Covid-19 pandemic
- Precipitating factors of catastrophic antiphospholipid syndrome: the role of anticoagulant treatment in a series of 112 patients
- Predictors of acute ischemic cerebral lesions in immune-mediated thrombotic thrombocytopenic purpura and hemolytic uremic syndrome
- SOGC Guideline Retirement Notice No. 2
- The Nathalie syndrome. A new hereditary syndrome