Gene expression profiling of orbital muscles in treatment-resistant ophthalmoplegic myasthenia gravis.
Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study
Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease
The prognostic role of plasma fibrinogen in adult secondary hemophagocytic lymphohistiocytosis
Clinical features of a Chinese female nongestational choriocarcinoma cohort: a retrospective study of 37 patients
Clinical Features and Disease Severity in Patients With Mosaic Neurofibromatosis Type 1: A Single-Center Study and Literature Review
Neuropsychiatric, Cognitive and Sexual Impairment in Mastocytosis Patients
Diagnostic Yield of Rare Skeletal Dysplasia Conditions in the Radiogenomics Era – A UK Experience
Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for CLN2 Disease Patients
Genetic Spectrum and Clinical Early Natural History of Glucose-6-Phosphate Dehydrogenase Deficiency in Mexican Children Detected Through Newborn Screening.