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Page 1
Genetic and functional insights into CDA-I prevalence and pathogenesis.
Olijnik AA, Roy NBA, Scott C, Marsh JA, Brown J, Lauschke K, Ask K, Roberts N, Downes DJ, Brolih S, Johnson E, Xella B, Proven M, Hipkiss R, Ryan K, Frisk P, Mäkk J, Stattin EM, Sadasivam N, McIlwaine L, Hill QA, Renella R, Hughes JR, Gibbons RJ, Groth A, McHugh PJ, Higgs DR, Buckle VJ, Babbs C. Olijnik AA, et al. Among authors: roy nba. J Med Genet. 2021 Mar;58(3):185-195. doi: 10.1136/jmedgenet-2020-106880. Epub 2020 Jun 9. J Med Genet. 2021. PMID: 32518175 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, 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. 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.
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. 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, 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. 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.
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: roy nba. 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.
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: roy nba. Br J Haematol. 2024 Jul;205(1):236-242. doi: 10.1111/bjh.19575. Epub 2024 May 29. Br J Haematol. 2024. PMID: 38811201
52 results