A homozygous MED11 C-terminal variant causes a lethal neurodegenerative diseaseElisa Calì, Salman Kirmani, Sheng‐Jia Lin et al.|Genetics in Medicine|2022Cited by 17
451PGenetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patientsGülçin Akıncı, Haluk Topaloğlu, Ece Onel et al.|Neuromuscular Disorders|2025Cited by 0