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

107,825 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Among authors: chen x. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.
Chen X, Garcelon N, Neuraz A, Billot K, Lelarge M, Bonald T, Garcia H, Martin Y, Benoit V, Vincent M, Faour H, Douillet M, Lyonnet S, Saunier S, Burgun A. Chen X, et al. J Biomed Inform. 2019 Dec;100:103308. doi: 10.1016/j.jbi.2019.103308. Epub 2019 Oct 14. J Biomed Inform. 2019. PMID: 31622800 Free article.
Diagnosis support systems for rare diseases: a scoping review.
Faviez C, Chen X, Garcelon N, Neuraz A, Knebelmann B, Salomon R, Lyonnet S, Saunier S, Burgun A. Faviez C, et al. Among authors: chen x. Orphanet J Rare Dis. 2020 Apr 16;15(1):94. doi: 10.1186/s13023-020-01374-z. Orphanet J Rare Dis. 2020. PMID: 32299466 Free PMC article. Review.
A Multi-Omics Common Data Model for Primary Immunodeficiencies.
Buy M, Digan W, Chen X, Husson J, Ménager M, Rieux-Laucat F, Garcelon N; ATRACTion Members. Buy M, et al. Among authors: chen x. Stud Health Technol Inform. 2022 Jun 6;290:56-60. doi: 10.3233/SHTI220031. Stud Health Technol Inform. 2022. PMID: 35672970 Free article.
Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity.
Faviez C, Vincent M, Garcelon N, Boyer O, Knebelmann B, Heidet L, Saunier S, Chen X, Burgun A. Faviez C, et al. Among authors: chen x. Orphanet J Rare Dis. 2024 Feb 10;19(1):55. doi: 10.1186/s13023-024-03063-7. Orphanet J Rare Dis. 2024. PMID: 38336713 Free PMC article.
107,825 results
You have reached the last available page of results. Please see the User Guide for more information.