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Year Number of Results
1995 1
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2000 4
2001 3
2002 4
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2004 6
2005 4
2006 2
2007 2
2008 5
2010 5
2011 1
2013 6
2014 8
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2016 14
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2022 8
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151 results

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Page 1
Phenotypic diversity in NAXE mutations.
Solmaz I, Yalnızoğlu D, Dursun A, Çıkı K, Akar HT, Özgül RK, Koşukçu C, Sezer A, Çağdaş D, Esenboğa S, Özbek B, Aygün D, Yılmaz DY, Parlak Ş, Göçmen R, Oğuz KK, Anlar B. Solmaz I, et al. Among authors: akar ht. Neurol Sci. 2025 Jun;46(6):2819-2828. doi: 10.1007/s10072-025-08006-z. Epub 2025 Feb 12. Neurol Sci. 2025. PMID: 39937421
Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis.
Chiang SCC, Covill LE, Tesi B, Campbell TM, Schlums H, Nejati-Zendegani J, Mördrup K, Wood S, Theorell J, Sekine T, Al-Herz W, Akar HH, Belen FB, Chan MY, Devecioglu O, Aksu T, Ifversen M, Malinowska I, Sabel M, Unal E, Unal S, Introne WJ, Krzewski K, Gilmour KC, Ehl S, Ljunggren HG, Nordenskjöld M, Horne A, Henter JI, Meeths M, Bryceson YT. Chiang SCC, et al. Among authors: akar hh. Blood. 2024 Aug 22;144(8):873-887. doi: 10.1182/blood.2024024499. Blood. 2024. PMID: 38958468 Free PMC article.
A transposase-derived gene required for human brain development.
Zapater LJ, Lewis SA, Gutierrez RL, Yamada M, Rodriguez-Fos E, Planas-Felix M, Cameron D, Demarest P, Nabila A, Mueller HS, Zhao J, Bergin P, Reed C, Chwat-Edelstein T, Pagnozzi A, Nava C, Bourel-Ponchel E, Cornejo P, Dursun A, Özgül RK, Akar HT, Houlden H, Cheema HA, Anjum MN, Zifarelli G, Bauer P, Essid M, Benrhouma H, Hafsa MB, Kraoua I, Galaz-Montoya CI, Proekt A, Zhao X, Socci ND, Hayes M, Bigot Y, Rabadan R, Maroofian R, Torrents D, Kleinman CL, Kruer MC, Toth M, Kentsis A. Zapater LJ, et al. Among authors: akar ht. Sci Adv. 2026 Jan 16;12(3):eadv7530. doi: 10.1126/sciadv.adv7530. Epub 2026 Jan 14. Sci Adv. 2026. PMID: 41533792 Free PMC article.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Almousa H, Lewis SA, Bakhtiari S, Nordlie SH, Pagnozzi A, Magee H, Efthymiou S, Heim JA, Cornejo P, Zaki MS, Anwar N, Maqbool S, Rahman F, Neilson DE, Vemuri A, Jin SC, Yang XR, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel AL, Tomoum H, Shata MO, Hashem MO, Toosi MB, Karimiani EG, Yeşil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent JB, Innes AM, Dursun A, Özgül RK, Akar HT, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat LD, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, Kruer MC. Almousa H, et al. Among authors: akar ht. Brain. 2024 Jan 4;147(1):311-324. doi: 10.1093/brain/awad301. Brain. 2024. PMID: 37713627 Free PMC article.
Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response.
Zubarioglu T, Kadıoğlu-Yılmaz B, Köse E, Teke-Kısa P, Balcı MC, Yazıcı H, Özturk-Hişmi B, Akgün A, Kor D, Yıldız S, Kılıç-Yıldırım G, Soyuçen E, Akçalı A, Yıldız Y, Durmuş A, Güneş D, Soylu-Üstkoyuncu P, Kasapkara ÇS, Erdöl Ş, Göksoy E, Akar HT, Gümüş H, Ekmekçi AH, Eminoğlu FT, Arslan N, Hanağası HA, Canda E, Genç E, Özer I, Gündüz A, Kıykım E, Aktuğlu-Zeybek Ç. Zubarioglu T, et al. Among authors: akar ht. J Inherit Metab Dis. 2025 Jul;48(4):e70069. doi: 10.1002/jimd.70069. J Inherit Metab Dis. 2025. PMID: 40702717
COVID-19-related anxiety in phenylketonuria patients.
Akar HT, Karaboncuk Y, Çıkı K, Kahraman AB, Erdal İ, Coşkun T, Tokatlı A, Dursun A, Yıldız Y, Sivri HS. Akar HT, et al. Turk J Pediatr. 2021;63(5):790-800. doi: 10.24953/turkjped.2021.05.007. Turk J Pediatr. 2021. PMID: 34738361 Free article.
Renal Behçet's disease: an update.
Akpolat T, Dilek M, Aksu K, Keser G, Toprak O, Cirit M, Oğuz Y, Taşkapan H, Adibelli Z, Akar H, Tokgöz B, Arici M, Celiker H, Diri B, Akpolat I. Akpolat T, et al. Among authors: akar h. Semin Arthritis Rheum. 2008 Dec;38(3):241-8. doi: 10.1016/j.semarthrit.2007.11.001. Epub 2008 Jan 25. Semin Arthritis Rheum. 2008. PMID: 18221990 Review.
A transposase-derived gene required for human brain development.
Zapater LJ, Lewis SA, Gutierrez RL, Yamada M, Rodriguez-Fos E, Planas-Felix M, Cameron D, Demarest P, Nabila A, Mueller H, Zhao J, Bergin P, Reed C, Chwat-Edelstein T, Pagnozzi A, Nava C, Bourel-Ponchel E, Cornejo P, Dursun A, Özgül RK, Akar HT, Maroofian R, Houlden H, Cheema HA, Anjum MN, Zifarelli G, Essid M, Ben Hafsa M, Benrhouma H, Montoya CIG, Proekt A, Zhao X, Socci ND, Hayes M, Bigot Y, Rabadan R, Torrents D, Kleinmann CL, Kruer MC, Toth M, Kentsis A. Zapater LJ, et al. Among authors: akar ht. bioRxiv [Preprint]. 2024 Aug 13:2023.04.28.538770. doi: 10.1101/2023.04.28.538770. bioRxiv. 2024. Update in: Sci Adv. 2026 Jan 16;12(3):eadv7530. doi: 10.1126/sciadv.adv7530. PMID: 37163102 Free PMC article. Updated. Preprint.
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.
Grünert SC, Langeveld M, Rudolph L, Spiekerkoetter U, Lund AM, Sechi A, Akar HT, Stepien KM, Aghakishili H, Lotz-Havla AS, Parhofer KG, Mercimek-Andrews S, Yazıcı H, Uçar SK, Scherer T, Wagenmakers M, Arslan N, Chang I, LaTray A, Bzduch V, Barić I, Weigel C, van Ockenburg SL, Rennings A, Derks TGJ, Rossi A, Cassiman D, Murphy E. Grünert SC, et al. Among authors: akar ht. J Inherit Metab Dis. 2026 Jan;49(1):e70140. doi: 10.1002/jimd.70140. J Inherit Metab Dis. 2026. PMID: 41554131
The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel Variants.
Göktaş S, Kalaycik Sengul O, Erdem Ş, Eke Güngör H, Babayeva R, Bilgic-Eltan S, Güzel T, Dörterler K, Rohlfs M, Özcan A, Yilmaz E, Karakukcu M, Akar HH, Karakoc-Aydiner E, Özen A, Elmas M, Patiroğlu T, Doğan ME, Baş H, Taylor N, Baris S, Klein C, Eken A, Ünal E. Göktaş S, et al. Among authors: akar hh. J Clin Immunol. 2026 Mar 6;46(1):32. doi: 10.1007/s10875-026-01989-0. J Clin Immunol. 2026. PMID: 41790376 Free PMC article.
151 results