Orphanet Journal of Rare Diseases

主题词：Genomics and Rare Diseases; Lysosomal Storage Disorders Research; Metabolism and Genetic Disorders; Glycogen Storage Diseases and Myoclonus; Health Systems, Economic Evaluations, Quality of Life; Connective tissue disorders research; Neurogenetic and Muscular Disorders Research; Mitochondrial Function and Pathology; Genetic Neurodegenerative Diseases; Amyloidosis: Diagnosis, Treatment, Outcomes; Tuberous Sclerosis Complex Research; Hereditary Neurological Disorders; Folate and B Vitamins Research; Skin and Cellular Biology Research; Cystic Fibrosis Research Advances; Dermatological and Skeletal Disorders; Genetic Syndromes and Imprinting; Muscle Physiology and Disorders; Biomedical Research and Pathophysiology; Cardiomyopathy and Myosin Studies; Autoimmune and Inflammatory Disorders Research; Amyotrophic Lateral Sclerosis Research; BRCA gene mutations in cancer; Coagulation, Bradykinin, Polyphosphates, and Angioedema; Genomic variations and chromosomal abnormalities