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A novel KIF11 missense mutation causing Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR): A case report and literature review

6532-6547 2024-06-30

Samira Asadollahi, Fatemeh Sefid, Masoumeh Askari, Seyed Ahmad Mohammadi, Hamid Reza Jahantigh, Mahtab Ordooei

Identification of a novel de novo deletion mutation of desmin in a neonate with desminopathy

4809-4817 2021-12-31

Nguyen Thi Huynh Nga, Bui Chi Bao, Nguyen Vuong Thao Vy, Nguyen Manh Cong, Nguyen Minh Hiep

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