A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family

por Song, Zixun, Si, Nuo, Xiao, Wei
Publicado 2018

Identification of a Novel Four and a Half LIM Domain 1 Mutation in a Chinese Male Presented with Hypertrophic Cardiomyopathy and Mild Skeletal Muscle Hypertrophy

por Zhang, Bing-Qing, Si, Nuo, Liu, Dong-Fang
Publicado 2015

Transcriptomic analysis of the upper lip and primary palate development in mice

por Cai, Sini, Si, Nuo, Wang, Yanyang, Yin, Ningbei
Publicado 2023

A 105 kb interstitial insertion in the Xq27.1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype

por Si, Nuo, Meng, Xiaolu, Zhao, Zhen, Xia, Weibo, Zhang, Xue
Publicado 2019

Clinical and genetic findings in patients with congenital cataract and heart diseases

por Li, Xinru, Si, Nuo, Song, Zixun, Ren, Yaqiong, Xiao, Wei
Publicado 2021

Genetic Screening of Targeted Region on the Chromosome 22q11.2 in Patients with Microtia and Congenital Heart Defect

por Zhu, Caiyun, Yang, Yang, Pan, Bo, Wei, Hui, Ju, Jiahang, Si, Nuo, Xu, Qi
Publicado 2023

Genetic Testing of the mucin 1 gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease

por Si, Nuo, Zheng, Ke, Ma, Jie, Meng, Xiao-Lu, Li, Xue-Mei, Zhang, Xue
Publicado 2017

17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotyp...

por Shen, Yuqi, Si, Nuo, Liu, Zhe, Liu, Fang, Meng, Xiaolu, Zhang, Ying, Zhang, Xue
Publicado 2018

De novo 22q11.2 deletions and auricular findings in two Chinese patients with microtia

por Si, Nuo, Zhang, Zeya, Huang, Xin, Wang, Chanchen, Guo, Peipei, Pan, Bo, Jiang, Haiyue
Publicado 2021

Slc20a2-Deficient Mice Exhibit Multisystem Abnormalities and Impaired Spatial Learning Memory and Sensorimotor Gating but Normal Motor Coordination Abilities

por Ren, Yaqiong, Shen, Yuqi, Si, Nuo, Fan, Shiqi, Zhang, Yi, Xu, Wanhai, Shi, Lei, Zhang, Xue
Publicado 2021

Identification of a Novel Mutation in Solute Carrier Family 29, Member 3 in a Chinese Patient with H Syndrome

por Liu, Jia-Wei, Si, Nuo, Wang, Lian-Qing, Shen, Ti, Zeng, Xue-Jun, Zhang, Xue, Ma, Dong-Lai
Publicado 2015

Model development and validation of noninvasive parameters based on coronary computed tomography angiography to predict culprit lesions in acute coronary syndromes within 3 years:...

por Li, Na, Dong, Xiaolin, Zhu, Chentao, Shi, Ke, Si, Nuo, Shi, Zhenzhou, Pan, Hong, Wang, Shuting, Zhao, Min, Zhang, Tong
Publicado 2023

Identification of patients with acute coronary syndrome and representation of their degree of inflammation: application of pericoronary adipose tissue within different radial dista...

por Dong, Xiaolin, Zhu, Chentao, Li, Na, Shi, Ke, Si, Nuo, Wang, Yujia, Pan, Hong, Shi, Zhenzhou, Wang, Shuting, Zhao, Min, Zhang, Tong
Publicado 2023

The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature

por Chen, Ru-Xuan, Zhang, Lei, Ye, Wei, Wen, Yu-Bing, Si, Nuo, Li, Hang, Li, Ming-Xi, Li, Xue-Mei, Zheng, Ke
Publicado 2018

Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies

por Lu, Chaoxia, Wu, Wei, Liu, Fang, Yang, Kunqi, Li, Jiacheng, Liu, Yaping, Wang, Rongrong, Si, Nuo, Gao, Peng, Liu, Yongtai, Zhang, Shuyang, Zhang, Xue
Publicado 2018

Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia

por Si, Nuo, Meng, Xiaolu, Lu, Xiaosheng, Liu, Zhe, Qi, Zhan, Wang, Lianqing, Li, Chuan, Yang, Meirong, Zhang, Ye, Wang, Changchen, Guo, Peipei, Zhu, Lingdong, Liu, Lei, Li, Zhengyong, Zhang, Zhenyu, Cai, Zhen, Pan, Bo, Jiang, Haiyue, Zhang, Xue
Publicado 2020