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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
Invisible burden of COVID-19: enzyme replacement therapy disruptions.
Kahraman AB, Yıldız Y, Çıkı K, Akar HT, Erdal İ, Dursun A, Tokatlı A, Sivri HS. Kahraman AB, et al. Among authors: akar ht. J Pediatr Endocrinol Metab. 2021 Apr 5;34(5):539-545. doi: 10.1515/jpem-2021-0067. Print 2021 May 26. J Pediatr Endocrinol Metab. 2021. PMID: 33818036 Free article.
A transposase-derived gene required for human brain development.
Zapater LJ, Rodriguez-Fos E, Planas-Felix M, Lewis S, Cameron D, Demarest P, Nabila A, Zhao J, Bergin P, Reed C, Yamada M, Pagnozzi A, Nava C, Bourel-Ponchel E, Neilson DE, Dursun A, Özgül RK, Akar HT, Socci ND, Hayes M, Rabadan R, Torrents D, Kruer MC, Toth M, Kentsis A. Zapater LJ, et al. Among authors: akar ht. bioRxiv [Preprint]. 2023 May 23:2023.04.28.538770. doi: 10.1101/2023.04.28.538770. bioRxiv. 2023. PMID: 37163102 Free PMC article. Preprint.
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.
15 results