Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

140,788 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
DNAH14 variants are associated with neurodevelopmental disorders.
Li J, Yuan Y, Liu C, Xu Y, Xiao N, Long H, Luo Z, Meng S, Wang H, Xiao B, Mao X, Long L. Li J, et al. Among authors: wang h. Hum Mutat. 2022 Jul;43(7):940-949. doi: 10.1002/humu.24386. Epub 2022 Apr 28. Hum Mutat. 2022. PMID: 35438214
The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel.
Mao X, Bruneau N, Gao Q, Becq H, Jia Z, Xi H, Shu L, Wang H, Szepetowski P, Aniksztejn L. Mao X, et al. Among authors: wang h. Front Cell Neurosci. 2020 Jan 24;14:1. doi: 10.3389/fncel.2020.00001. eCollection 2020. Front Cell Neurosci. 2020. PMID: 32038177 Free PMC article.
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF; Undiagnosed Diseases Network; Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B. Chung HL, et al. Among authors: wang h. Am J Hum Genet. 2020 May 7;106(5):717-725. doi: 10.1016/j.ajhg.2020.04.001. Epub 2020 Apr 23. Am J Hum Genet. 2020. PMID: 32330417 Free PMC article.
140,788 results
You have reached the last available page of results. Please see the User Guide for more information.