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Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.
How social pharmaceutical innovations are addressing problems of availability, accessibility and affordability of drugs for rare diseases.
Research hotspots and trends in malignant hyperthermia due to anesthesia from a global perspective: a bibliometric analysis from 1975 to 2024.
Social pharmaceutical innovation and alternative forms of research, development and deployment for drugs for rare diseases.
Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations.