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Year Number of Results
2012 1
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2014 1
2015 3
2016 6
2017 2
2018 1
2019 3
2020 1
2021 4
2025 1

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23 results

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Page 1
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Ferreira CR, Hackbarth ME, Ziegler SG, Pan KS, Roberts MS, Rosing DR, Whelpley MS, Bryant JC, Macnamara EF, Wang S, Müller K, Hartley IR, Chew EY, Corden TE, Jacobsen CM, Holm IA, Rutsch F, Dikoglu E, Chen MY, Mughal MZ, Levine MA, Gafni RI, Gahl WA. Ferreira CR, et al. Among authors: dikoglu e. Genet Med. 2021 Feb;23(2):396-407. doi: 10.1038/s41436-020-00983-0. Epub 2020 Oct 2. Genet Med. 2021. PMID: 33005041 Free PMC article.
Evidence of SARS-CoV-2-Specific T-Cell-Mediated Myocarditis in a MIS-A Case.
Vannella KM, Oguz C, Stein SR, Pittaluga S, Dikoglu E, Kanwal A, Ramelli SC, Briese T, Su L, Wu X, Ramos-Benitez MJ, Perez-Valencia LJ, Babyak A, Cha NR, Chung JY, Ylaya K, Madathil RJ, Saharia KK, Scalea TM, Tran QK, Herr DL, Kleiner DE, Hewitt SM, Notarangelo LD, Grazioli A, Chertow DS. Vannella KM, et al. Among authors: dikoglu e. Front Immunol. 2021 Dec 9;12:779026. doi: 10.3389/fimmu.2021.779026. eCollection 2021. Front Immunol. 2021. PMID: 34956207 Free PMC article.
Molecular Basis of Breast Tumor Heterogeneity.
Dikoglu E, Pareja F. Dikoglu E, et al. Adv Exp Med Biol. 2025;1464:237-257. doi: 10.1007/978-3-031-70875-6_13. Adv Exp Med Biol. 2025. PMID: 39821029 Review.
Sequencing and curation strategies for identifying candidate glioblastoma treatments.
Frank MO, Koyama T, Rhrissorrakrai K, Robine N, Utro F, Emde AK, Chen BJ, Arora K, Shah M, Geiger H, Felice V, Dikoglu E, Rahman S, Fang A, Vacic V, Bergmann EA, Vogel JLM, Reeves C, Khaira D, Calabro A, Kim D, Lamendola-Essel MF, Esteves C, Agius P, Stolte C, Boockvar J, Demopoulos A, Placantonakis DG, Golfinos JG, Brennan C, Bruce J, Lassman AB, Canoll P, Grommes C, Daras M, Diamond E, Omuro A, Pentsova E, Orange DE, Harvey SJ, Posner JB, Michelini VV, Jobanputra V, Zody MC, Kelly J, Parida L, Wrzeszczynski KO, Royyuru AK, Darnell RB. Frank MO, et al. Among authors: dikoglu e. BMC Med Genomics. 2019 Apr 25;12(1):56. doi: 10.1186/s12920-019-0500-0. BMC Med Genomics. 2019. PMID: 31023376 Free PMC article.
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.
Kiper POS, Saito H, Gori F, Unger S, Hesse E, Yamana K, Kiviranta R, Solban N, Liu J, Brommage R, Boduroglu K, Bonafé L, Campos-Xavier B, Dikoglu E, Eastell R, Gossiel F, Harshman K, Nishimura G, Girisha KM, Stevenson BJ, Takita H, Rivolta C, Superti-Furga A, Baron R. Kiper POS, et al. Among authors: dikoglu e. N Engl J Med. 2016 Jun 30;374(26):2553-2562. doi: 10.1056/NEJMoa1509342. N Engl J Med. 2016. PMID: 27355534 Free PMC article.
Indel variant analysis of short-read sequencing data with Scalpel.
Fang H, Bergmann EA, Arora K, Vacic V, Zody MC, Iossifov I, O'Rawe JA, Wu Y, Jimenez Barron LT, Rosenbaum J, Ronemus M, Lee YH, Wang Z, Dikoglu E, Jobanputra V, Lyon GJ, Wigler M, Schatz MC, Narzisi G. Fang H, et al. Among authors: dikoglu e. Nat Protoc. 2016 Dec;11(12):2529-2548. doi: 10.1038/nprot.2016.150. Epub 2016 Nov 17. Nat Protoc. 2016. PMID: 27854363 Free PMC article.
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.
Zaki MS, Bhat G, Sultan T, Issa M, Jung HJ, Dikoglu E, Selim L, G Mahmoud I, Abdel-Hamid MS, Abdel-Salam G, Marin-Valencia I, Gleeson JG. Zaki MS, et al. Among authors: dikoglu e. Ann Neurol. 2016 Jul;80(1):59-70. doi: 10.1002/ana.24678. Epub 2016 Jun 1. Ann Neurol. 2016. PMID: 27130255 Free PMC article.
Correction to: Sequencing and curation strategies for identifying candidate glioblastoma treatments.
Frank MO, Koyama T, Rhrissorrakrai K, Robine N, Utro F, Emde AK, Chen BJ, Arora K, Shah M, Geiger H, Felice V, Dikoglu E, Rahman S, Fang X, Vacic V, Bergmann EA, Moore Vogel JL, Reeves C, Khaira D, Calabro A, Kim D, Lamendola-Essel MF, Esteves C, Agius P, Stolte C, Boockvar J, Demopoulos A, Placantonakis DG, Golfinos JG, Brennan C, Bruce J, Lassman AB, Canoll P, Grommes C, Daras M, Diamond E, Omuro A, Pentsova E, Orange DE, Harvey SJ, Posner JB, Michelini VV, Jobanputra V, Zody MC, Kelly J, Parida L, Wrzeszczynski KO, Royyuru AK, Darnell RB. Frank MO, et al. Among authors: dikoglu e. BMC Med Genomics. 2019 Aug 2;12(1):114. doi: 10.1186/s12920-019-0563-y. BMC Med Genomics. 2019. PMID: 31375115 Free PMC article.
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
Dikoglu E, Alfaiz A, Gorna M, Bertola D, Chae JH, Cho TJ, Derbent M, Alanay Y, Guran T, Kim OH, Llerenar JC Jr, Yamamoto G, Superti-Furga G, Reymond A, Xenarios I, Stevenson B, Campos-Xavier B, Bonafé L, Superti-Furga A, Unger S. Dikoglu E, et al. Am J Med Genet A. 2015 Jul;167(7):1501-9. doi: 10.1002/ajmg.a.37029. Epub 2015 Mar 21. Am J Med Genet A. 2015. PMID: 25808063
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG. Akizu N, et al. Among authors: dikoglu e. Nat Genet. 2015 May;47(5):528-34. doi: 10.1038/ng.3256. Epub 2015 Apr 6. Nat Genet. 2015. PMID: 25848753 Free PMC article.
23 results