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Page 1
Dyskeratosis Congenita Links Telomere Attrition to 
Age-Related Systemic Energetics.
James EN, Sagi-Kiss V, Bennett M, Mycielska ME, Karen-Ng LP, Roberts T, Matta S, Dokal I, Bundy JG, Parkinson EK. James EN, et al. Among authors: dokal i. J Gerontol A Biol Sci Med Sci. 2023 May 11;78(5):780-789. doi: 10.1093/gerona/glad018. J Gerontol A Biol Sci Med Sci. 2023. PMID: 36651908 Free PMC article.
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H, Walne AJ, Badat M, Patel M, Walne AM, Alnajar J, Chow CC, Albursan I, Frost JM, Ballard D, Killick S, Szitányi P, Kelly AM, Raghavan M, Powell C, Raymakers R, Todd T, Mantadakis E, Polychronopoulou S, Pontikos N, Liao T, Madapura P, Hossain U, Vulliamy T, Dokal I. Tummala H, et al. Among authors: dokal i. EMBO Mol Med. 2024 Oct;16(10):2560-2582. doi: 10.1038/s44321-024-00118-x. Epub 2024 Aug 28. EMBO Mol Med. 2024. PMID: 39198715 Free PMC article.
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I. Tummala H, et al. Among authors: dokal i. Am J Hum Genet. 2024 Jul 11;111(7):1494. doi: 10.1016/j.ajhg.2024.05.022. Epub 2024 Jun 11. Am J Hum Genet. 2024. PMID: 38866021 Free PMC article. No abstract available.
Primary Ewing sarcoma of the kidney: a rare entity with diagnostic challenges.
El Mohtarim R, Yassine Aaboudech T, Sassi S, Rguieg N, Cherraqi A, Dokal ID, El Haddad S, Allali N, Chat L, Hessissen L, Kisra M, Rouas L, Lamalmi N. El Mohtarim R, et al. Among authors: dokal id. J Surg Case Rep. 2024 Jun 3;2024(6):rjae390. doi: 10.1093/jscr/rjae390. eCollection 2024 Jun. J Surg Case Rep. 2024. PMID: 38832066 Free PMC article.
Guidelines for the diagnosis and management of adult aplastic anaemia: A British Society for Haematology Guideline.
Kulasekararaj A, Cavenagh J, Dokal I, Foukaneli T, Gandhi S, Garg M, Griffin M, Hillmen P, Ireland R, Killick S, Mansour S, Mufti G, Potter V, Snowden J, Stanworth S, Zuha R, Marsh J; BSH Committee. Kulasekararaj A, et al. Among authors: dokal i. Br J Haematol. 2024 Mar;204(3):784-804. doi: 10.1111/bjh.19236. Epub 2024 Jan 21. Br J Haematol. 2024. PMID: 38247114
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Hakkarainen M, Kaaja I, Douglas SPM, Vulliamy T, Dokal I, Soulier J, Larcher L, Peffault de Latour R, Leblanc T, Sicre de Fontbrune F, Siitonen T, Lohi O, Hellström-Lindberg E, Barbany G, Tesi B, Shimamura A, Beier F, Jackson S, Kuperman AA, Falik Zaccai T, Tamary H, Mecucci C, Capolsini I, Jahnukainen K, Salmenniemi U, Niinimäki R, Varilo T, Kilpivaara O, Wartiovaara-Kautto U. Hakkarainen M, et al. Among authors: dokal i. Blood. 2023 Jun 8;141(23):2853-2866. doi: 10.1182/blood.2022019425. Blood. 2023. PMID: 36952636 Free article.
A misleading tumor: A rare form of infantile fibromatosis.
El Ouali I, Berrada K, Dokal ID, Saouab R, El Fenni J, Salaheddine T. El Ouali I, et al. Among authors: dokal id. SAGE Open Med Case Rep. 2023 Feb 24;11:2050313X231157485. doi: 10.1177/2050313X231157485. eCollection 2023. SAGE Open Med Case Rep. 2023. PMID: 36860305 Free PMC article.
Primary Ewing's Sarcoma of the Spine: About a Case.
Cherraqi A, Lemrabet A, Dokal ID, Lrhorfi N, Belghiti H, Allali N, Chat L. Cherraqi A, et al. Among authors: dokal id. Glob Pediatr Health. 2022 Nov 17;9:2333794X221123874. doi: 10.1177/2333794X221123874. eCollection 2022. Glob Pediatr Health. 2022. PMID: 36420454 Free PMC article.
165 results