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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

184 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population.
Campbell T, Slone J, Metzger H, Liu W, Sacharow S, Yang A, Moosajee M, La Morgia C, Carelli V, Palombo F, Lines MA, Innes AM, Levy RJ, Neilson D, Longo N, Huang T. Campbell T, et al. Among authors: neilson d. Genet Med Open. 2023 Nov 11;2:100841. doi: 10.1016/j.gimo.2023.100841. eCollection 2024. Genet Med Open. 2023. PMID: 39669623 Free PMC article.
FDXR variants cause adrenal insufficiency and atypical sexual development.
Pignatti E, Slone J, Gómez Cano MÁ, Campbell TM, Vu J, Sauter KS, Pandey AV, Martínez-Azorín F, Alonso-Riaño M, Neilson DE, Longo N, du Toit T, Voegel CD, Huang T, Flück CE. Pignatti E, et al. Among authors: neilson de. JCI Insight. 2024 Jun 17;9(14):e179071. doi: 10.1172/jci.insight.179071. JCI Insight. 2024. PMID: 38885337 Free PMC article.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Almousa H, Lewis SA, Bakhtiari S, Nordlie SH, Pagnozzi A, Magee H, Efthymiou S, Heim JA, Cornejo P, Zaki MS, Anwar N, Maqbool S, Rahman F, Neilson DE, Vemuri A, Jin SC, Yang XR, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel AL, Tomoum H, Shata MO, Hashem MO, Toosi MB, Karimiani EG, Yeşil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent JB, Innes AM, Dursun A, Özgül RK, Akar HT, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat LD, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, Kruer MC. Almousa H, et al. Among authors: neilson de. Brain. 2024 Jan 4;147(1):311-324. doi: 10.1093/brain/awad301. Brain. 2024. PMID: 37713627 Free PMC article.
Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene.
Jepsen WM, Fazenbaker A, Ramsey K, Bonfitto A, Naymik M, Turner B, Sloan J, Tiwari N, Bernes SM, Neilson DE, Sanchez-Castillo M, Huentelman MJ, Narayanan V. Jepsen WM, et al. Among authors: neilson de. Int J Mol Sci. 2024 Nov 6;25(22):11922. doi: 10.3390/ijms252211922. Int J Mol Sci. 2024. PMID: 39595988 Free PMC article.
Losartan Treatment Reduces Esophageal Eosinophilic Inflammation in a Subset of Eosinophilic Esophagitis.
Abonia JP, Rudman Spergel AK, Hirano I, Shoda T, Zhang X, Martin LJ, Mukkada VA, Putnam PE, Blacklidge M, Neilson D, Collins MH, Yang GY, Capocelli KE, Foote H, Eby M, Dong S, Aceves SS, Rothenberg ME; Consortium of Eosinophilic Gastrointestinal Disease Researchers. Abonia JP, et al. Among authors: neilson d. J Allergy Clin Immunol Pract. 2024 Sep;12(9):2427-2438.e3. doi: 10.1016/j.jaip.2024.07.011. Epub 2024 Jul 25. J Allergy Clin Immunol Pract. 2024. PMID: 39059581 Clinical Trial.
184 results