Biblio

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Journal Article

Zhou C, Wang J, Zhang Q, Yang Q, Yi S, Shen Y, Luo J, Qin Z. Clinical and genetic analysis of combined oxidative phosphorylation defificiency-10 caused by MTO1 mutation. Clin Chim Acta. 2022.

Yi S, Qin Z, Zhou X, Chen J, Yi S, Chen Q, Huang L, Zhang Q, Chen B, Luo J. Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene. Mol Genet Genomic Med. 2023:e2215.

Yi S, Tang X, Chen F, Wang L, Chen J, Yang Z, Huang M, Yi S, Huang L, Yang Q, et al. A genetic variant in the MAST1 gene is associated with mega-corpus-callosum syndrome with hypoplastic cerebellar vermis, in a fetus. Mol Genet Genomic Med. 2024;12(1):e2358.

Liu F, Liang C, Li Z, Zhao S, Yuan H, Yao R, Qin Z, Shangguan S, Zhang S, Zou L-P, et al. Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment. Brain. 2023.

Yi S, Tang X, Zhang Q, Liang Y, Huang J, Zhang S, Huang L, Yi S, Huang M, Qin Z, et al. A nonsense variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities. Heliyon. 2024;10(6):e27946.

Yi S, Li M, Yang Q, Zhang X, Chen F, Qin Z, Yi S, Huang L, Wei H, Zhang Q, et al. Novel SLC12A1 Mutations cause Bartter Syndrome in Two Patients with Different Prognoses. Clin Chim Acta. 2022.

Cao J, Zhao X, Qin Z, Lv S, Du L, Liu Z, Fan L, Bo H. Single Cell Map of Human Azoospermia Testis Caused by Cyclophosphamide Chemotherapy. Sci Data. 2024;11(1):163.