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Page 1
Genotype-phenotype correlation in recessive DNAJB4 myopathy.
Inoue M, Jayaraman D, Bengoechea R, Bhadra A, Genetti CA, Aldeeri AA, Turan B, Pacheco-Orozco RA, Al-Maawali A, Al Hashmi N, Zamani AG, Göktaş E, Pekcan S, Çağlar HT, True H, Beggs AH, Weihl CC. Inoue M, et al. Among authors: pekcan s. Res Sq [Preprint]. 2024 Oct 14:rs.3.rs-4915388. doi: 10.21203/rs.3.rs-4915388/v1. Res Sq. 2024. Update in: Acta Neuropathol Commun. 2024 Oct 28;12(1):171. doi: 10.1186/s40478-024-01878-w PMID: 39483874 Free PMC article. Updated. Preprint.
Genotype‒phenotype correlation in recessive DNAJB4 myopathy.
Inoue M, Jayaraman D, Bengoechea R, Bhadra A, Genetti CA, Aldeeri AA, Turan B, Pacheco-Orozco RA, Al-Maawali A, Al Hashmi N, Zamani AG, Göktaş E, Pekcan S, Çağlar HT, True H, Beggs AH, Weihl CC. Inoue M, et al. Among authors: pekcan s. Acta Neuropathol Commun. 2024 Oct 28;12(1):171. doi: 10.1186/s40478-024-01878-w. Acta Neuropathol Commun. 2024. PMID: 39468638 Free PMC article.
Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study.
Semenchuk J, Naito Y, Charman SC, Carr SB, Cheng SY, Marshall BC, Faro A, Elbert A, Gutierrez HH, Goss CH, Karadag B, Burgel PR, Colombo C, Salvatore M, Padoan R, Daneau G, Harutyunyan S, Kashirskaya N, Kirwan L, Middleton PG, Ruseckaite R, de Monestrol I, Naehrlich L, Mondejar-Lopez P, Jung A, van Rens J, Bakkeheim E, Orenti A, Zomer-van Ommen D, da Silva-Filho LVR, Fernandes FF, Zampoli M, Stephenson AL; Global CF Registry Collaboration. Semenchuk J, et al. J Cyst Fibros. 2024 Sep;23(5):815-822. doi: 10.1016/j.jcf.2024.07.019. Epub 2024 Aug 26. J Cyst Fibros. 2024. PMID: 39191560 Free article.
Factors associated with pulmonary function decline of patients in the cystic fibrosis registry of Turkey: A retrospective cohort study.
Emiralioğlu N, Çakır B, Sertçelik A, Yalçın E, Kiper N, Şen V, Altıntaş DU, Serbes M, Çokuğraş H, Kılınç AA, Başkan AK, Hepkaya E, Yazan H, Türel Ö, Kafi HM, Yılmaz Aİ, Ünal G, Çağlar T, Damadoğlu E, Irmak İ, Demir E, Öztürk G, Bingöl A, Başaran E, Sapan N, Aslan AT, Asfuroğlu P, Harmancı K, Köse M, Hangül M, Özdemir A, Tuğcu G, Polat SE, Özcan G, Gayretli ZG, Keskin Ö, Bilgiç S, Yüksel H, Özdoğan Ş, Topal E, Çaltepe G, Can D, Ekren PK, Kılıç M, Süleyman A, Eyüboğlu TŞ, Cinel G, Pekcan S, Çobanoğlu N, Çakır E, Özçelik U, Doğru D. Emiralioğlu N, et al. Among authors: pekcan s. Pediatr Pulmonol. 2024 Nov;59(11):2956-2966. doi: 10.1002/ppul.27165. Epub 2024 Jul 9. Pediatr Pulmonol. 2024. PMID: 38980199
Comparison of clinical features of cystic fibrosis patients eligible but not on CFTR modulators to ineligible for CFTR modulators.
Nayır Büyükşahin H, Emiralioğlu N, Yalçın E, Şen V, Selimoğlu Şen H, Arslan H, Başkan AK, Çakır FB, Koray CF, Yılmaz Aİ, Ercan F, Altıntaş DU, Serbes M, Keskin Ö, Arık E, Gülen F, Barlık M, Karcıoğlu O, Damadoğlu E, Köse M, Ersoy A, Bingöl A, Başaran E, Çakır EP, Aslan AT, Canıtez Y, Korkmaz M, Özdemir A, Harmancı K, Soydaş ŞS, Hangül M, Yüksel H, Özcan G, Korkmaz P, Kılıç M, Gayretli Aydın ZG, Çaltepe G, Can D, Doğru S, Kartal Öztürk G, Süleyman A, Topal E, Özsezen B, Hızal M, Demirdöğen E, Ogun H, Börekçi Ş, Yazan H, Çakır E, Şişmanlar Eyüboğlu T, Çobanoğlu N, Cinel G, Pekcan S, Özçelik U, Doğru D. Nayır Büyükşahin H, et al. Among authors: pekcan s. Pediatr Pulmonol. 2024 Oct;59(10):2499-2506. doi: 10.1002/ppul.27051. Epub 2024 May 21. Pediatr Pulmonol. 2024. PMID: 38771207
Alexithymia in primary ciliary dyskinesia.
Çağlar HT, Pekcan S, Erden S, Ünal G, Yılmaz Aİ, Ercan F, Savaş S, Ayman FN, İstanbullu HA. Çağlar HT, et al. Among authors: pekcan s. Pediatr Pulmonol. 2024 Oct;59(10):2457-2463. doi: 10.1002/ppul.27038. Epub 2024 May 2. Pediatr Pulmonol. 2024. PMID: 38695576
Comparison of refugee patients with cystic fibrosis and their counterpart children from Turkey during the war.
Yılmaz Aİ, Pekcan S, Eyüboğlu TŞ, Hangül M, Arslan H, Kılınç AA, Çokuğraş H, Arık E, Keskin Ö, Özdemir A, Ersoy M, Ersoy A, Köse M, Özsezen B, Ünal G, Ercan Ö, Girit S, Oksay SC, Gökdemir Y, Karadağ B, Şen V, Çakır E, Yüksel H, Tekin MN, Aslan AT. Yılmaz Aİ, et al. Among authors: pekcan s. Eur J Pediatr. 2024 Apr;183(4):1831-1838. doi: 10.1007/s00431-024-05431-8. Epub 2024 Jan 24. Eur J Pediatr. 2024. PMID: 38265526 Free PMC article.
Childhood interstitial lung disease in Turkey: first data from the national registry.
Nayır-Büyükşahin H, Emiralioğlu N, Kılınç AA, Girit S, Yalçın E, Şişmanlar Eyüboğlu T, Çobanoğlu N, Cinel G, Pekcan S, Gökdemir Y, Oğuz B, Orhan D, Doğru D, Özçelik U, Başkan AK, Arslan H, Çokuğraş H, Onay ZR, Oksay SC, Tortop DM, Aslan AT, Kekeç H, Zirek F, Tekin MN, Gülen F, Girgin Dindar B, Eryılmaz Polat S, Uytun S, Yılmaz Aİ, Ünal G, Eralp EE, Karadağ B, Hangül M, Köse M, Özsezen B, Çakır E, Bingöl A, Hızal M, Kartal Öztürk G, Uyan ZS, Ramaslı Gürsoy T, Serbes M, Kiper N. Nayır-Büyükşahin H, et al. Among authors: pekcan s. Eur J Pediatr. 2024 Jan;183(1):295-304. doi: 10.1007/s00431-023-05290-9. Epub 2023 Oct 25. Eur J Pediatr. 2024. PMID: 37875631
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