Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation

por Nojehdeh, Somayeh Takrim, Mojbafan, Marzieh, Hooman, Nakysa, Hoseini, Rozita, Otukesh, Hasan
Publicado 2022

Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report

por Mojbafan, Marzieh, Nojehdeh, Somayeh Takrim, Rahiminejad, Faezeh, Nilipour, Yalda, Tonekaboni, Seyed Hasan, Zeinali, Sirous
Publicado 2020