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

247 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A new line method; A direct test in spinal muscular atrophy screening for DBS.
Kubar A, Temel SG, Beken S, Onder G, Hatirnaz O, Korkmaz A, Alanay Y, Ozbek U, Sag SO, Ergoren MC, Kubar E, Sonmezalp CZ, Doğan O. Kubar A, et al. Among authors: ozbek u. Mol Genet Genomic Med. 2023 Dec;11(12):e2270. doi: 10.1002/mgg3.2270. Epub 2023 Aug 23. Mol Genet Genomic Med. 2023. PMID: 37614112 Free PMC article.
Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.
Guner Yilmaz B, Akgun-Dogan O, Ozdemir O, Yuksel B, Hatirnaz Ng O, Bilguvar K, Ay B, Ozkose GS, Aydin E, Yigit A, Bulut A, Esen FN, Beken S, Aktas S, Demirel A, Arcagok BC, Kazanci E, Bingol İ, Umur O, Sik G, Isik U, Ersoy M, Korkmaz A, Citak A, Mardinoglu A, Ozbek U, Alanay Y. Guner Yilmaz B, et al. Among authors: ozbek u. Front Pediatr. 2024 Jul 4;12:1412880. doi: 10.3389/fped.2024.1412880. eCollection 2024. Front Pediatr. 2024. PMID: 39026936 Free PMC article.
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.
Taruscio D, Salvatore M, Lumaka A, Carta C, Cellai LL, Ferrari G, Sciascia S, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Puri RD, Romero V, Scaria V, Jamuar SS, Shotelersuk V, Roccatello D, Gahl WA, Wiafe SA, Bodamer O, Posada M. Taruscio D, et al. Among authors: ozbek u. Front Public Health. 2023 Mar 2;11:1079601. doi: 10.3389/fpubh.2023.1079601. eCollection 2023. Front Public Health. 2023. PMID: 36935719 Free PMC article.
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.
Sciascia S, Roccatello D, Salvatore M, Carta C, Cellai LL, Ferrari G, Lumaka A, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Puri RD, Romero VI, Scaria V, Jamuar SS, Shotelersuk V, Gahl WA, Wiafe SA, Bodamer O, Posada M, Taruscio D. Sciascia S, et al. Among authors: ozbek u. Front Public Health. 2023 Sep 26;11:1248260. doi: 10.3389/fpubh.2023.1248260. eCollection 2023. Front Public Health. 2023. PMID: 37822540 Free PMC article.
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD,… See abstract for full author list ➔ Delgado-Vega AM, et al. Among authors: ozbek u. Nat Genet. 2024 Oct 21. doi: 10.1038/s41588-024-01941-1. Online ahead of print. Nat Genet. 2024. PMID: 39433890 No abstract available.
A preoperative window-of-opportunity study of oral SERD, imlunestrant, in newly diagnosed ER-positive, HER2-negative early breast cancer: Results from EMBER-2 Study.
Neven P, Stahl N, Vidal M, Martín M, Kaufman PA, Harbeck N, Hunt KK, Carter S, Bidard FC, Fasching PA, Aftimos P, Wheatley D, Hamilton E, Aft R, Kulkarni S, Schmid P, Bhave M, Ismail-Khan R, Karacsonyi C, Estrem ST, Nguyen B, Ozbek U, Yuen E, Rodrik-Outmezguine V, Ciruelos E. Neven P, et al. Among authors: ozbek u. Clin Cancer Res. 2024 Oct 8. doi: 10.1158/1078-0432.CCR-24-2113. Online ahead of print. Clin Cancer Res. 2024. PMID: 39377773
247 results