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Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.
Uctepe E, Vona B, Esen FN, Sonmez FM, Smol T, Tümer S, Mancılar H, Geylan Durgun DE, Boute O, Moghbeli M, Ghayoor Karimiani E, Hashemi N, Bakhshoodeh B, Kim HG, Maroofian R, Yesilyurt A. Uctepe E, et al. Among authors: sonmez fm. Eur J Hum Genet. 2024 Jan;32(1):52-60. doi: 10.1038/s41431-023-01461-2. Epub 2023 Oct 26. Eur J Hum Genet. 2024. PMID: 37880421 Free PMC article.
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cavusoglu D, Ozturk G, Turkdogan D, Kurul SH, Yis U, Komur M, Incecik F, Kara B, Sahin T, Unver O, Dilber C, Mert GG, Gunay C, Uzan GS, Ersoy O, Oktay Y, Mermer S, Tuncer GO, Gungor O, Ozcora GDK, Gumus U, Sezer O, Cetin GO, Demir F, Yilmaz A, Gurbuz G, Topcu M, Topaloglu H, Ceylan AC, Ceylaner S, Gleeson JG, Icagasioglu DF, Sonmez FM. Cavusoglu D, et al. Among authors: sonmez fm. Cerebellum. 2024 Apr 15. doi: 10.1007/s12311-024-01690-1. Online ahead of print. Cerebellum. 2024. PMID: 38622473
Pediatric kidney care experience after the 2023 Turkey/Syria earthquake.
Bakkaloğlu SA, Delibaş A, Sürmeli Döven S, Taner S, Yavuz S, Erfidan G, Danacı Vatansever E, Aynacı F, Yilmaz K, Taşdemir M, Akacı O, Akıncı N, Güven S, Çiçek N, Dursun I, Keleşoğlu E, Sancaktar M, Alaygut D, Saygılı S, Yavaşcan Ö, Yılmaz A, Gülleroğlu K, Ertan P, Demir BK, Poyrazoğlu H, Pınarbaşı S, Gençler A, Baştuğ F, Günay N, Çeleğen K, Noyan A, Parmaksız G, Avcı B, Çaycı FŞ, Bayrakçı U, Özlü SG, Aksoy ÖY, Yel S, İnal GA, Köse S, Bayazıt AK, Atmış B, Sarıbaş E, Çağlı Ç, Tabel Y, Elmas AT, Zırhlı Selçuk Ş, Demircioğlu Kılıç B, Akbalık Kara M, Büyükçelik M, Balat A, Durucu Tiryaki B, Erdoğdu B, Aksu B, Mahmudova G, Dursun H, Candan C, Göknar N, Mutlubaş F, Çamlar SA, Başaran C, Akbulut BB, Düzova A, Gülhan B, Oruç Ç, Peru H, Alpay H, Türkkan ÖN, Gülmez R, Çelakıl M, Doğan K, Bilge I, Pehlivanoğlu C, Büyükkaragöz B, Leventoğlu E, Alpman N, Zeybek C, Tülpar S, Çiçek Gülşan RY, Kara A, Gürgöze MK, Önder Akyol EN, Özdemir Atikel Y, Pul S, Sönmez F, Yıldız G, Akman S, Elmacı M, Küçük N, Yüksel S, Kavaz A, Nalçacıoğlu H, Alparslan C, Dinçel N, Elhan AH, Sever L. Bakkaloğlu SA, et al. Among authors: sonmez f. Nephrol Dial Transplant. 2024 Feb 7:gfae033. doi: 10.1093/ndt/gfae033. Online ahead of print. Nephrol Dial Transplant. 2024. PMID: 38327222
Urine soluble TLR4 levels may contribute to predict urinary tract infection in children: the UTILISE Study.
Aksu B, Afonso AC, Akil I, Alpay H, Atmis B, Aydog O, Bayazıt AK, Bayram MT, Bilge I, Bulut IK, Buyukkaragoz B, Comak E, Demir BK, Dincel N, Donmez O, Durmus MA, Dursun H, Dusunsel R, Duzova A, Ertan P, Gedikbasi A, Goknar N, Guven S, Hacihamdioglu D, Jankauskiene A, Kalyoncu M, Kavukcu S, Kenan BU, Kucuk N, Kural B, Litwin M, Montini G, Morello W, Obrycki L, Omer B, Oner HA, Ozdemir EM, Ozkayin N, Paripovic D, Pehlivanoglu C, Saygili S, Schaefer F, Schaefer S, Sonmez F, Tabel Y, Tas N, Tasdemir M, Teixeira A, Tekcan D, Topaloglu R, Tulpar S, Turkkan ON, Uysal B, Uysalol M, Vitkevic R, Yavuz S, Yel S, Yildirim T, Yildirim ZY, Yildiz N, Yuksel S, Yurtseven E, Yilmaz A. Aksu B, et al. Among authors: sonmez f. Pediatr Nephrol. 2024 Feb;39(2):483-491. doi: 10.1007/s00467-023-06063-0. Epub 2023 Jul 18. Pediatr Nephrol. 2024. PMID: 37462743
156 results