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MeSH:(Bone Diseases, Developmental/diagnosis/*genetics)

1.Prenatal diagnosis and genetic analysis of 17 fetuses with skeletal dysplasia.

Jianyang LU ; Lei HUAI ; Caijuan LU ; Yafeng WU ; Huiqing ZHU ; Xin ZHAN ; Hongbo ZHAI

Chinese Journal of Medical Genetics 2020;37(11):1217-1221

2.CNV-seq analysis of copy number variations in 217 fetuses with nasal bone dysplasia.

Panlai SHI ; Yaqin HOU ; Duo CHEN ; Ning LIU ; Zhihui JIAO ; Yin FENG ; Gege SUN ; Ruonan ZHU ; Xiangdong KONG

Chinese Journal of Medical Genetics 2022;39(10):1076-1079

4.A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome.

Ji Hun LIM ; Eul Ju SEO ; Yoo Mi KIM ; Hyun Ju CHO ; Jin Ok LEE ; Chong Kun CHEON ; Han Wook YOO

Annals of Laboratory Medicine 2014;34(5):390-394

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