SLC34A2 gene compound heterozygous mutation identification in a patient with pulmonary alveolar microlithiasis and computational 3D protein structure prediction

por Wang, Huiying, Yin, Xinzhen, Wu, Dingwen, Jiang, Xinguo
Publicado 2014

KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders

por Zhu, Liuyan, Lv, Lina, Wu, Dingwen, Shao, Jie
Publicado 2020

Growth Concerns in Coffin–Lowry Syndrome: A Case Report and Literature Review

por Lv, Ying, Zhu, Liuyan, Zheng, Jing, Wu, Dingwen, Shao, Jie
Publicado 2019

A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report

por Zhang, Li, Wang, Jinling, Dong, Guanping, Wu, Dingwen, Wu, Wei
Publicado 2021

Developmental expression of survivin during embryonic submandibular salivary gland development

por Jaskoll, Tina, Chen, Haiming, Min Zhou, Yan, Wu, Dingwen, Melnick, Michael
Publicado 2001

SNPMap—An integrated visual SNP interpretation tool

por Liu, Miaosen, Yang, Jian, Duan, Huilong, Yu, Lan, Wu, Dingwen, Li, Haomin
Publicado 2022

De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature

por Shen, Yingxiao, Xu, Xiaoqin, Chen, Jiansong, Wang, Jingjing, Dong, Guanping, Huang, Ke, Fu, Junfen, Wu, Dingwen, Wu, Wei
Publicado 2023

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China

por Chen, Ting, Xu, Weize, Wu, Dingwen, Han, Jiamin, Zhu, Ling, Tong, Fan, Yang, Rulai, Zhao, Zhengyan, Jiang, Pingping, Shu, Qiang
Publicado 2018

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates

por Huang, Xinwen, Wu, Dingwen, Zhu, Lin, Wang, Wenjun, Yang, Rulai, Yang, Jianbin, He, Qunyan, Zhu, Bingquan, You, Ying, Xiao, Rui, Zhao, Zhengyan
Publicado 2022