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

19,778 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Basonuclin 1 deficiency is a cause of primary ovarian insufficiency.
Zhang D, Liu Y, Zhang Z, Lv P, Liu Y, Li J, Wu Y, Zhang R, Huang Y, Xu G, Qian Y, Qian Y, Chen S, Xu C, Shen J, Zhu L, Chen K, Zhu B, Ye X, Mao Y, Bo X, Zhou C, Wang T, Chen D, Yang W, Tan Y, Song Y, Zhou D, Sheng J, Gao H, Zhu Y, Li M, Wu L, He L, Huang H. Zhang D, et al. Among authors: shen j. Hum Mol Genet. 2018 Nov 1;27(21):3787-3800. doi: 10.1093/hmg/ddy261. Hum Mol Genet. 2018. PMID: 30010909
Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.
Wang T, Xu C, Zhou X, Li C, Zhang H, Lian BQ, Lee JJ, Shen J, Liu Y, Lian CG. Wang T, et al. Among authors: shen j. Int J Mol Sci. 2015 Sep 9;16(9):21791-801. doi: 10.3390/ijms160921791. Int J Mol Sci. 2015. PMID: 26370990 Free PMC article.
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.
Malinowski J, Miller DT, Demmer L, Gannon J, Pereira EM, Schroeder MC, Scheuner MT, Tsai AC, Hickey SE, Shen J; ACMG Professional Practice and Guidelines Committee. Malinowski J, et al. Among authors: shen j. Genet Med. 2020 Jun;22(6):986-1004. doi: 10.1038/s41436-020-0771-z. Epub 2020 Mar 23. Genet Med. 2020. PMID: 32203227 Free PMC article.
Clinical Interpretation of Sequence Variants.
Zhang J, Yao Y, He H, Shen J. Zhang J, et al. Among authors: shen j. Curr Protoc Hum Genet. 2020 Jun;106(1):e98. doi: 10.1002/cphg.98. Curr Protoc Hum Genet. 2020. PMID: 32176464 Free PMC article.
Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing.
Soares de Lima Y, Chiabai M, Shen J, Córdoba MS, Versiani BR, Benício ROA, Pogue R, Mingroni-Netto RC, Lezirovitz K, Pic-Taylor A, Mazzeu JF, Oliveira SF. Soares de Lima Y, et al. Among authors: shen j. Hear Res. 2018 Dec;370:181-188. doi: 10.1016/j.heares.2018.10.008. Epub 2018 Oct 16. Hear Res. 2018. PMID: 30390570
19,778 results
You have reached the last available page of results. Please see the User Guide for more information.