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MeSH:(Retina/abnormalities)

1.Phenotype and genotype analysis of a pedigree affected with Joubert syndrome due to variant of TMEM237 gene.

Shandan CUI ; Haijuan LOU ; Haijun YIN ; Fangfang GENG ; Ning LI ; Lirong MA

Chinese Journal of Medical Genetics 2021;38(12):1211-1215

2.Unilateral Peters' Anomaly with Chorioretinal Coloboma in the Other Eye.

Dooyoung CHO ; Donggyu CHOI ; Wooho NAM

Korean Journal of Ophthalmology 2011;25(5):352-354

3.Unilateral Peters' Anomaly with Chorioretinal Coloboma in the Other Eye.

Dooyoung CHO ; Donggyu CHOI ; Wooho NAM

Korean Journal of Ophthalmology 2011;25(5):352-354

4.Phenotypic analysis and variant identification of a fetus with Joubert syndrome 17.

Yan ZHAO ; Yanhui ZHAO ; Yuan LYU ; Hong PANG

Chinese Journal of Medical Genetics 2021;38(9):841-844

5.Report of a case with Joubert syndrome and literature review.

Ya-hui YI ; Gang LI ; Zhong-lie LU ; Jian-sheng ZHOU ; Zhen-wei YAO ; Peng-fei WANG ; Jin-xiang YAO

Chinese Journal of Pediatrics 2011;49(12):939-942

6.Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing.

Huanhuan WANG ; Wenting JIANG ; Mengyao DAI ; Bing XIAO ; Yan XU ; Yu SUN ; Yu LIU ; Xiaomin YING ; Yunlong SUN ; Wei WEI ; Xing JI

Chinese Journal of Medical Genetics 2019;36(7):686-689

7.Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome.

Dengzhi ZHAO ; Yan CHU ; Ke YANG ; Xiaodong HUO ; Xingxing LEI ; Yanli YANG ; Chaoyang ZHANG ; Hai XIAO ; Shixiu LIAO

Chinese Journal of Medical Genetics 2023;40(1):21-25

8.Clinical and genetic analyses of Joubert syndrome in children.

Guang-Yu ZHANG ; Yun-Xia ZHAO ; Hui-Ling ZHAO ; Guo-Hao TANG ; Peng-Liang WANG ; Deng-Na ZHU

Chinese Journal of Contemporary Pediatrics 2023;25(5):497-501

9.Clinical and genetic analysis for a Joubert syndrome family with CC2D2A gene mutations.

Yanhua SU ; Jiansheng XIE ; Shanshan YU ; Hongyu LUO ; Weiqing WU ; Zhiyong XU

Chinese Journal of Pediatrics 2015;53(6):431-435

10.Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome.

Zhouxian BAI ; Shuang HU ; Ning LIU ; Qinghua WU ; Xiangdong KONG

Chinese Journal of Medical Genetics 2020;37(5):509-513

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