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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM Jr, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, Mignot C, Grotto S, Rena… See abstract for full author list ➔ Sheppard SE, et al. Among authors: akman c. Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10. Sci Adv. 2023. PMID: 36897941 Free PMC article.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH, Suckow V, Gibbons J, Hoff A, Sigfrid L, Megarbane A, Nizon M, Cogné B, Beneteau C, Alkuraya FS, Chedrawi A, Hashem MO, Stamberger H, Weckhuysen S, Vanlander A, Ceulemans B, Rajagopalan S, Nunn K, Arpin S, Raynaud M, Motter CS, Ward-Melver C, Janssens K, Meuwissen M, Beysen D, Dikow N, Grimmel M, Haack TB, Clement E, McTague A, Hunt D, Townshend S, Ward M, Richards LJ, Simons C, Costain G, Dupuis L, Mendoza-Londono R, Dudding-Byth T, Boyle J, Saunders C, Fleming E, El Chehadeh S, Spitz MA, Piton A, Gerard B, Abi Warde MT, Rea G, McKenna C, Douzgou S, Banka S, Akman C, Bain JM, Sands TT, Wilson GN, Silvertooth EJ, Miller L, Lederer D, Sachdev R, Macintosh R, Monestier O, Karadurmus D, Collins F, Carter M, Rohena L, Willemsen MH, Ockeloen CW, Pfundt R, Kroft SD, Field M, Laranjeira FER, Fortuna AM, Soares AR, Michaud V, Naudion S, Golla S, Weaver DD, Bird LM, Friedman J, Clowes V, Joss S, Pölsler L, Campeau PM, Blazo M, Bijlsma EK, Rosenfeld JA, Beetz C, Powis Z, McWalter K, Brandt T, Torti E, Mathot M, Mohammad SS, Armstrong R, Kalscheuer VM. Palmer EE, et al. Among authors: akman c. Mol Psychiatry. 2023 Feb;28(2):668-697. doi: 10.1038/s41380-022-01852-9. Epub 2022 Nov 16. Mol Psychiatry. 2023. PMID: 36385166 Free PMC article.
Long-term cardiovascular outcomes after mini-crush or T and minimal protrusion techniques in complex bifurcation lesions: the EVOLUTE-CRUSH III study.
Güner A, Uzun F, Çizgici AY, Kahraman S, Demirci G, Çiloğlu K, Gökçe K, Doğan A, Akman C, Uysal H, Gültekin Güner E, Aktürk İF, Yildiz M, Serter B, Yalçin AA, Keskin B, Ertürk M. Güner A, et al. Among authors: akman c. Coron Artery Dis. 2024 May 30. doi: 10.1097/MCA.0000000000001392. Online ahead of print. Coron Artery Dis. 2024. PMID: 38809138
Comparison of long-term outcomes of double kissing crush versus T and minimal protrusion techniques in complex bifurcation lesions: The EVOLUTE-CRUSH II registry.
Uzun F, Güner A, Demirci G, Çiloğlu K, Uysal H, Çizgici AY, Bulut Ü, Kahraman S, Ağuş HZ, Gökçe K, Doğan A, Akman C, Yalçın AA, Aktürk İF, Köseoğlu M, Kalkan AK, Ertürk M, Karagöz A, Colombo A. Uzun F, et al. Among authors: akman c. Catheter Cardiovasc Interv. 2024 Mar;103(4):511-522. doi: 10.1002/ccd.30986. Epub 2024 Feb 28. Catheter Cardiovasc Interv. 2024. PMID: 38415900
A Comprehensive Evaluation of National Cardiology Congresses Abstracts on the Basis of the 2016 Academic Criteria.
Güner A, Güner EG, Kalçık M, Akman C, Kahraman S, Bayam E, Kalkan S, Yesin M, Çiloğlu K, Gökçe K, Uzun F, Doğan A, Gürsoy MO, Ertürk M, Gündüz S, Özkan M. Güner A, et al. Among authors: akman c. Turk Kardiyol Dern Ars. 2023 Oct 31. doi: 10.5543/tkda.2023.69226. Online ahead of print. Turk Kardiyol Dern Ars. 2023. PMID: 37905536 Free article. English.
Cardiovascular Outcomes After Mini-Crush or Double Kissing Crush Stenting Techniques for Complex Bifurcation Lesions: The EVOLUTE-CRUSH Registry.
Güner A, Uzun F, Demirci G, Gökçe K, Uysal H, Serter B, Kahraman S, Çizgici AY, Güner EG, Çiloğlu K, Demir AR, Özalp TA, Avcı Y, Akman C, Ertürk M, Colombo A. Güner A, et al. Among authors: akman c. Am J Cardiol. 2023 Nov 1;206:238-246. doi: 10.1016/j.amjcard.2023.07.182. Epub 2023 Sep 16. Am J Cardiol. 2023. PMID: 37722225
160 results