Makaleler

• Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency (American Journal of Human Genetics, 2025)

• Reanalysis of whole-exome sequencing data of an infant with suspected diagnosis of Jeune syndrome revealed a likely pathogenic variant in GRK2: A newly associated gene for Jeune syndrome phenotype (Molecular Syndromology, 2024)

• A case of Carvajal syndrome associated with cervical neuroblastoma in an 8-year-old girl (International Journal of Dermatology, 2019)