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Year Number of Results
2019 2
2020 6
2021 4
2022 7
2023 1
2024 2

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17 results

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Page 1
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.
Günay Ç, Aykol D, Özsoy Ö, Sönmezler E, Hanci YS, Kara B, Akkoyunlu Sünnetçi D, Cine N, Deniz A, Özer T, Ölçülü CB, Yilmaz Ö, Kanmaz S, Yilmaz S, Tekgül H, Yildiz N, Acar Arslan E, Cansu A, Olgaç Dündar N, Kusgoz F, Didinmez E, Gençpinar P, Aksu Uzunhan T, Ertürk B, Gezdirici A, Ayaz A, Ölmez A, Ayanoğlu M, Tosun A, Topçu Y, Kiliç B, Aydin K, Çağlar E, Ersoy Kosvali Ö, Okuyaz Ç, Besen Ş, Tekin Orgun L, Erol İ, Yüksel D, Sezer A, Atasoy E, Toprak Ü, Güngör S, Ozgor B, Karadağ M, Dilber C, Şahinoğlu B, Uyur Yalçin E, Eldes Hacifazlioglu N, Yaramiş A, Edem P, Gezici Tekin H, Yilmaz Ü, Ünalp A, Turay S, Biçer D, Gül Mert G, Dokurel Çetin İ, Kirik S, Öztürk G, Karal Y, Sanri A, Aksoy A, Polat M, Özgün N, Soydemir D, Sarikaya Uzan G, Ülker Üstebay D, Gök A, Yeşilmen MC, Yiş U, Karakülah G, Bursali A, Oktay Y, Hiz Kurul S. Günay Ç, et al. Among authors: edem p. Neuropediatrics. 2023 Aug;54(4):225-238. doi: 10.1055/a-2034-8528. Epub 2023 Feb 14. Neuropediatrics. 2023. PMID: 36787800
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Arlt A, Kohlschmidt N, Hentschel A, Bartels E, Groß C, Töpf A, Edem P, Szabo N, Sickmann A, Meyer N, Schara-Schmidt U, Lau J, Lochmüller H, Horvath R, Oktay Y, Roos A, Hiz S. Arlt A, et al. Among authors: edem p. Orphanet J Rare Dis. 2022 Jan 31;17(1):29. doi: 10.1186/s13023-021-02068-w. Orphanet J Rare Dis. 2022. PMID: 35101074 Free PMC article.
COL4A1-related autosomal recessive encephalopathy in 2 Turkish children.
Yaramis A, Lochmüller H, Töpf A, Sonmezler E, Yilmaz E, Hiz S, Yis U, Gungor S, Ipek Polat A, Edem P, Beltran S, Laurie S, Yaramis A, Horvath R, Oktay Y. Yaramis A, et al. Among authors: edem p. Neurol Genet. 2020 Jan 10;6(1):e392. doi: 10.1212/NXG.0000000000000392. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042920 Free PMC article.
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S, Oktay Y, Töpf A, Szabó NZ, Güngör S, Yaramis A, Sonmezler E, Matalonga L, Yis U, Schon K, Paramonov I, Kalafatcilar İP, Gao F, Rieger A, Arslan N, Yilmaz E, Ekinci B, Edem PP, Aslan M, Özgör B, Lochmüller A, Nair A, O'Heir E, Lovgren AK; Broad Center for Mendelian Genomics; Maroofian R, Houlden H, Polavarapu K, Roos A, Müller JS, Hathazi D, Chinnery PF, Laurie S, Beltran S, Lochmüller H, Horvath R. Hiz Kurul S, et al. Among authors: edem pp. Brain. 2022 May 24;145(4):1507-1518. doi: 10.1093/brain/awab395. Brain. 2022. PMID: 34791078 Free PMC article.
The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy.
Fogarasi A, Fazzi E, Smorenburg ARP, Mazurkiewicz-Beldzinska M, Dinopoulos A, Pobiecka A, Schröder-van den Nieuwendijk D, Kraus J, Tekgül H; PURPLE N study group; Czech Republic:; Kraus J; Greece:; Dinopoulos A, Koutsaki M; Hungary:; Fogarasi A; Italy:; Baranello G, Bertoli S, Caramaschi E, Cordelli DM, De Amicis R, Fazzi E, Forchielli ML, Guerra A, Lividini A, Marchiò M, Rossi A; Netherlands:; Nieuwendijk DSD; Poland:; Fliciński J, Gurda B, Lemska A, Matheisel A, Mazurkiewicz-Beldzinska M, Niwinska Z, Pawłowicz M, Sawicka A, Steinborn B, Szmuda M, Winczewska-Wiktor A, Zawadzka M; Slovakia:; Pobiecka A; Turkey:; Arhan E, Aydin K, Bayram E, Carman KB, Edem P, Ertem D, Goktas ÖA, Gungor S, Haliloglu G, Kansu A, Kömür M, Mutlu A, Kırsaçlıoğlu CT, Okuyaz Ç, Özgör B, Ozturk Y, Sager SG, Sarıgeçili E, Selimoglu MA, Serin HMÖ, Teber ST, Tekgül H, Thomas G, Turkdogan D, Volkan B, Yarar C, Yilmaz SK. Fogarasi A, et al. Among authors: edem p. Disabil Rehabil. 2022 Nov;44(22):6668-6675. doi: 10.1080/09638288.2021.1970255. Epub 2021 Sep 2. Disabil Rehabil. 2022. PMID: 34473588 Free article.
17 results