Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
4 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.
Eur J Hum Genet. 2024 Jan;32(1):52-60. doi: 10.1038/s41431-023-01461-2. Epub 2023 Oct 26.
Eur J Hum Genet. 2024.
PMID: 37880421
Free PMC article.
KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure.
Uctepe E, Esen FN, Tümer S, Mancılar H, Yeşilyurt A.
Uctepe E, et al. Among authors: esen fn.
Intractable Rare Dis Res. 2022 Nov;11(4):219-221. doi: 10.5582/irdr.2022.01096.
Intractable Rare Dis Res. 2022.
PMID: 36457583
Free PMC article.
Item in Clipboard
TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature.
Uctepe E, Yesilyurt A, Esen FN, Tumer S, Mancilar H, Sonmez FM.
Uctepe E, et al. Among authors: esen fn.
Mol Syndromol. 2023 Dec;14(6):485-492. doi: 10.1159/000531439. Epub 2023 Aug 7.
Mol Syndromol. 2023.
PMID: 38058760
Free PMC article.
Item in Clipboard
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O, Tuc Bengur E, Ay B, Ozkose GS, Kar E, Bengur FB, Bulut AS, Yigit A, Aydin E, Esen FN, Ozdemir O, Yesilyurt A, Alanay Y.
Akgun-Dogan O, et al. Among authors: esen fn.
Front Genet. 2024 Mar 15;15:1347474. doi: 10.3389/fgene.2024.1347474. eCollection 2024.
Front Genet. 2024.
PMID: 38560291
Free PMC article.
Item in Clipboard
Cite
Cite