Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A

por Yao, Yanyi, Deng, Shan, Zhu, Feng
Publicado 2022

Case Report: Identification of a novel CASK missense variant in a Chinese family with MICPCH

por Zhang, Runfeng, Jia, Peng, Yao, Yanyi, Zhu, Feng
Publicado 2022

Prenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3 → q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization

por Liu, Nian, Yan, Jiong, Chen, Xinlin, Song, Jieping, Wang, Bo, Yao, Yanyi
Publicado 2014

DES mutation associated with cardiac hypertrophy and alternating bundle branch block

por Chen, Ru, Qiu, Zhihua, Wang, Jing, Yao, Yanyi, Huang, Kai, Zhu, Feng
Publicado 2020

Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomalies

por Li, Hui, Yao, Yanyi, Zhang, Chengcheng, Qin, Yayun, Zeng, Ling, Song, Jieping, Lu, Li, Wang, Wei, Liu, Lijun
Publicado 2023

A family with Robertsonian translocation: a potential mechanism of speciation in humans

por Song, Jieping, li, Xi, Sun, Lei, Xu, Shuqin, Liu, Nian, Yao, Yanyi, Liu, Zhi, Wang, Weipeng, Rong, Han, Wang, Bo
Publicado 2016

Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases

por Qin, Yayun, Yao, Yanyi, Liu, Nian, Wang, Bo, Liu, Lijun, Li, Hui, Gao, Tangxinzi, Xu, Runhong, Wang, Xiaoyan, Zhang, Fanglian, Song, Jieping
Publicado 2023

Identification of a Novel NOG Missense Mutation in a Chinese Family With Symphalangism and Tarsal Coalitions

por Xiong, Jing, Tu, Wei, Yan, Yifei, Xiao, Kai, Yao, Yanyi, Li, Shouxin, Yang, Liu, Zhou, Min, Liu, Yang, Hu, Jin, Zhu, Feng
Publicado 2019

A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics

por Chen, Rui, Du, Shiyue, Yao, Yanyi, Zhang, Lu, Luo, Junyu, Shen, Yinhua, Xu, Zhenping, Zeng, Xiaomei, Zhang, Luoying, Liu, Mugen, Yin, Chuang, Tang, Beisha, Tan, Jun, Xu, Xuan, Liu, Jing Yu
Publicado 2021