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

24 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
Gök V, Leblebisatan G, Gürlek Gökçebay D, Güler S, Doğan ME, Tuğ Bozdoğan S, Koca Yozgat A, Özcan A, Pekpak Şahinoğlu E, Tokgöz H, Çil M, Özemri Sağ Ş, Yilmaz E, Şaşmaz Hİ, Evim MS, Akbayram S, Karadoğan M, Mutlu FT, Boğa İ, Yeter Doğan B, Yarali N, Çalişkan Ü, Bişgin A, Temel ŞG, Proven M, Gibson K, Demir BŞ, Saraçoğlu H, Eken A, Karakükçü Ç, Karakükçü M, Güneş AM, Özbek NY, Kilinç Y, Patiroğlu T, Özdemir MA, Roy NBA, Ünal E. Gök V, et al. Among authors: proven m. Br J Haematol. 2024 Jul;205(1):236-242. doi: 10.1111/bjh.19575. Epub 2024 May 29. Br J Haematol. 2024. PMID: 38811201
The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper.
Roy NBA, Da Costa L, Russo R, Bianchi P, Mañú-Pereira MDM, Fermo E, Andolfo I, Clark B, Proven M, Sanchez M, van Wijk R, van der Zwaag B, Layton M, Rees D, Iolascon A; British Society for Haematology/ European Hematology Association. Roy NBA, et al. Among authors: proven m. Br J Haematol. 2022 Aug;198(3):459-477. doi: 10.1111/bjh.18191. Epub 2022 Jun 6. Br J Haematol. 2022. PMID: 35661144 No abstract available.
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.
Roy NB, Wilson EA, Henderson S, Wray K, Babbs C, Okoli S, Atoyebi W, Mixon A, Cahill MR, Carey P, Cullis J, Curtin J, Dreau H, Ferguson DJ, Gibson B, Hall G, Mason J, Morgan M, Proven M, Qureshi A, Sanchez Garcia J, Sirachainan N, Teo J, Tedgård U, Higgs D, Roberts D, Roberts I, Schuh A. Roy NB, et al. Among authors: proven m. Br J Haematol. 2016 Oct;175(2):318-330. doi: 10.1111/bjh.14221. Epub 2016 Jul 19. Br J Haematol. 2016. PMID: 27432187 Free PMC article.
The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper.
Roy NBA, Da Costa L, Russo R, Bianchi P, Del Mar Mañú-Pereira M, Fermo E, Andolfo I, Clark B, Proven M, Sanchez M, van Wijk R, van der Zwaag B, Layton M, Rees D, Iolascon A. Roy NBA, et al. Among authors: proven m. Hemasphere. 2022 Jun 6;6(6):e739. doi: 10.1097/HS9.0000000000000739. eCollection 2022 Jun. Hemasphere. 2022. PMID: 35686139 Free PMC article. No abstract available.
RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.
Martell DJ, Merens HE, Caulier A, Fiorini C, Ulirsch JC, Ietswaart R, Choquet K, Graziadei G, Brancaleoni V, Cappellini MD, Scott C, Roberts N, Proven M, Roy NBA, Babbs C, Higgs DR, Sankaran VG, Churchman LS. Martell DJ, et al. Among authors: proven m. Dev Cell. 2023 Oct 23;58(20):2112-2127.e4. doi: 10.1016/j.devcel.2023.07.018. Epub 2023 Aug 15. Dev Cell. 2023. PMID: 37586368 Free PMC article.
RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.
Martell DJ, Merens HE, Fiorini C, Caulier A, Ulirsch JC, Ietswaart R, Choquet K, Graziadei G, Brancaleoni V, Cappellini MD, Scott C, Roberts N, Proven M, Roy NB, Babbs C, Higgs DR, Sankaran VG, Churchman LS. Martell DJ, et al. Among authors: proven m. medRxiv [Preprint]. 2023 Mar 7:2023.03.03.23286760. doi: 10.1101/2023.03.03.23286760. medRxiv. 2023. Update in: Dev Cell. 2023 Oct 23;58(20):2112-2127.e4. doi: 10.1016/j.devcel.2023.07.018 PMID: 36945604 Free PMC article. Updated. Preprint.
24 results