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The identification of a novel mutation (p.I223fs) in WRN associated with Werner syndrome.

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Publikováno v: Endocrine (1355008X); Apr2024, Vol. 84 Issue 1, p92-96, 5p

Identification and in vivo functional analysis of a novel missense mutation in GATA3causing hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome in a Chinese family

Autor: Pan, Shuyao, Long, Shushu, Cai, Liangchun, Wen, Junping, Lin, Wei, Chen, Gang

Publikováno v: Endocrine; 20240101, Issue: Preprints p1-10, 10p

Value of machine learning algorithms for predicting diabetes risk: A subset analysis from a real‐world retrospective cohort study.

Autor: Mao, Yaqian, Zhu, Zheng, Pan, Shuyao, Lin, Wei, Liang, Jixing, Huang, Huibin, Li, Liantao, Wen, Junping, Chen, Gang

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Identification and in vivo functional analysis of a novel missense mutation in GATA3 causing hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome in a Chinese family.

Autor: Pan S; Shengli Clinical Medical College of Fujian Medical University, Fuzhou, Fujian, 350001, China., Long S; Shengli Clinical Medical College of Fujian Medical University, Fuzhou, Fujian, 350001, China., Cai L; Department of Endocrinology, Fujian Provincial Hospital, Fuzhou, Fujian, 350001, China., Wen J; Shengli Clinical Medical College of Fujian Medical University, Fuzhou, Fujian, 350001, China.; Department of Endocrinology, Fujian Provincial Hospital, Fuzhou, Fujian, 350001, China., Lin W; Shengli Clinical Medical College of Fujian Medical University, Fuzhou, Fujian, 350001, China. caolalin0929@163.com.; Department of Endocrinology, Fujian Provincial Hospital, Fuzhou, Fujian, 350001, China. caolalin0929@163.com., Chen G; Shengli Clinical Medical College of Fujian Medical University, Fuzhou, Fujian, 350001, China. chengangfj@163.com.; Department of Endocrinology, Fujian Provincial Hospital, Fuzhou, Fujian, 350001, China. chengangfj@163.com.

Publikováno v: Endocrine [Endocrine] 2024 Nov 07. Date of Electronic Publication: 2024 Nov 07.