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Page 1
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.
Harms FL, Rexach JE, Efthymiou S, Aynekin B, Per H, Güleç A, Nampoothiri S, Sampaio H, Sachdev R, Stoeva R, Myers K, Pena LDM, Kalfa TA, Chard M, Klassen M, Pries M, Kutsche K. Harms FL, et al. Among authors: per h. Eur J Hum Genet. 2024 May;32(5):558-566. doi: 10.1038/s41431-024-01563-5. Epub 2024 Feb 19. Eur J Hum Genet. 2024. PMID: 38374468 Free PMC article.
Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.
Akalin H, Sahin IO, Paskal SA, Tan B, Yalcinkaya E, Demir M, Yakubi M, Caliskan BO, Ekinci OG, Ercan M, Kucuk TY, Gokgoz G, Kiraz A, Per H, Ozgun MT, Baydilli N, Ozkul Y, Dundar M. Akalin H, et al. Among authors: per h. J Clin Lab Anal. 2024 Jan;38(1-2):e24997. doi: 10.1002/jcla.24997. Epub 2023 Dec 19. J Clin Lab Anal. 2024. PMID: 38115218 Free PMC article.
Optic neuritis in Turkish children and adolescents: A multicenter retrospective study.
Direk MÇ, Besen Ş, Öncel İ, Günbey C, Özdoğan O, Orgun LT, Sahin S, Cansu A, Yıldız N, Kanmaz S, Yılmaz S, Tekgül H, Türkdoğan D, Ünver O, Thomas GÖ, Başıbüyük S, Yılmaz D, Kurt AN, Gültutan P, Özsoy Ö, Yiş U, Kurul SH, Güngör S, Özgör B, Karadağ M, Dündar NO, Gençpınar P, Bildik O, Orak SA, Kabur ÇÇ, Kara B, Karaca Ö, Canpolat M, Gümüş H, Per H, Yılmaz Ü, Karaoğlu P, Ersoy Ö, Tosun A, Öztürk SB, Yüksel D, Atasoy E, Gücüyener K, Yıldırım M, Bektaş Ö, Çavuşoğlu D, Yarar Ç, Güngör O, Mert GG, Sarıgeçili E, Edizer S, Çetin İD, Aydın S, Diler B, Özdemir AA, Erol İ, Okuyaz Ç, Anlar B. Direk MÇ, et al. Among authors: per h. Mult Scler Relat Disord. 2024 Jan;81:105149. doi: 10.1016/j.msard.2023.105149. Epub 2023 Nov 26. Mult Scler Relat Disord. 2024. PMID: 38096730
Pediatric-Onset Chronic Inflammatory Demyelinating Polyneuropathy: A Multicenter Study.
Sarıkaya Uzan G, Vural A, Yüksel D, Aksoy E, Öztoprak Ü, Canpolat M, Öztürk S, Yıldırım Ç, Güleç A, Per H, Gümüş H, Okuyaz Ç, Çobanoğulları Direk M, Kömür M, Ünalp A, Yılmaz Ü, Bektaş Ö, Teber S, Aliyeva N, Olgaç Dündar N, Gençpınar P, Gürkaş E, Keskin Yılmaz S, Kanmaz S, Tekgül H, Aksoy A, Öz Tuncer G, Acar Arslan E, Tosun A, Ayanoğlu M, Kızılırmak AB, Yousefi M, Bodur M, Ünay B, Hız Kurul S, Yiş U. Sarıkaya Uzan G, et al. Among authors: per h. Pediatr Neurol. 2023 Aug;145:3-10. doi: 10.1016/j.pediatrneurol.2023.04.018. Epub 2023 May 4. Pediatr Neurol. 2023. PMID: 37245275
Evaluating the brainstem in children with breath-holding spells.
Ozcora GDK, Kumandas S, Sagiroglu A, Acer N, Doganay S, Yigit H, Canpolat M, Per H, Gumus H. Ozcora GDK, et al. Among authors: per h. North Clin Istanb. 2022 Nov 28;9(6):610-615. doi: 10.14744/nci.2022.82085. eCollection 2022. North Clin Istanb. 2022. PMID: 36685636 Free PMC article.
Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes.
Yılmaz Ü, Gücüyener K, Yavuz M, Öncel İ, Canpolat M, Saltık S, Ünver O, Çıtak Kurt AN, Tosun A, Yılmaz S, Özgör B, Erol İ, Öztoprak Ü, Elitez DA, Direk MÇ, Bodur M, Teber S, Anlar B; Turkish Pediatric Multiple Sclerosis Study Group. Yılmaz Ü, et al. Eur J Paediatr Neurol. 2022 Nov;41:8-18. doi: 10.1016/j.ejpn.2022.08.006. Epub 2022 Sep 1. Eur J Paediatr Neurol. 2022. PMID: 36137476
124 results