Improving Early Diagnosis of Rare Diseases Using Natural Language Processing in Unstructured Medical Records: An Illustration From Dravet Syndrome
Carrier Frequency and Incidence Estimation of Smith–Lemli–Opitz syndrome in East Asian Populations by Genome Aggregation Database (gnomAD) Based Analysis
Chloroquine Decreases Cardiomyocyte Autophagy and Improves Cardiac Function in a Mouse Model of Duchenne Muscular Dystrophy
Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions
Assessment of tuberous sclerosis-associated neuropsychiatric disorders using the MINI-KID tool: a pediatric cohort study
Patient and family experience with Transthyretin Amyloid Cardiomyopathy (ATTR-CM) and Polyneuropathy (ATTR-PN) Amyloidosis: Results of two focus groups
Changes in PCSK 9 and Apolipoprotein B100 in Niemann-Pick Disease After Enzyme Replacement Therapy with Olipudase Alfa
Release of pseudosyndactyly in recessive dystrophic epidermolysis bullosa using a dermal regeneration template glove – the Foggia experience.
Results of a Patient Reported Experience Measure (PREM) to measure the rare disease patients and caregivers experience: A Spanish cross-sectional study
Mutation Profile of Collagen VI-Related Myopathy in Japan