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Page 1
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.
Pellerin D, Aykanat A, Ellezam B, Troiano EC, Karamchandani J, Dicaire MJ, Petitclerc M, Robertson R, Allard-Chamard X, Brunet D, Konersman CG, Mathieu J, Warman Chardon J, Gupta VA, Beggs AH, Brais B, Chrestian N. Pellerin D, et al. Among authors: aykanat a. Ann Neurol. 2020 Apr;87(4):568-583. doi: 10.1002/ana.25685. Epub 2020 Feb 8. Ann Neurol. 2020. PMID: 31970803 Free PMC article.
Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy.
Hayes LH, Perdomini M, Aykanat A, Genetti CA, Paterson HL, Cowling BS, Freitag C, Beggs AH. Hayes LH, et al. Among authors: aykanat a. Neurol Genet. 2022 Oct 25;8(6):e200027. doi: 10.1212/NXG.0000000000200027. eCollection 2022 Dec. Neurol Genet. 2022. PMID: 36324371 Free PMC article.
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR, Genetti CA, Aykanat A, Brownstein CA, Schmitz-Abe K, Danowski M, Quitadomo A, Madden JA, Yacoubian C, Gain R, Williams T, Meskell M, Brown A, Frith A, Rockowitz S, Sliz P, Agrawal PB, Defay T, McDonagh P, Reynders J, Lefebvre S, Beggs AH. Parikh JR, et al. Among authors: aykanat a. HGG Adv. 2021 Jul;2(3):100035. doi: 10.1016/j.xhgg.2021.100035. Epub 2021 May 11. HGG Adv. 2021. PMID: 34514437 Free PMC article.
Risk factors associated with adverse fetal outcomes in pregnancies affected by Coronavirus disease 2019 (COVID-19): a secondary analysis of the WAPM study on COVID-19.
Di Mascio D, Sen C, Saccone G, Galindo A, Grünebaum A, Yoshimatsu J, Stanojevic M, Kurjak A, Chervenak F, Rodríguez Suárez MJ, Gambacorti-Passerini ZM, Baz MLAA, Aguilar Galán EV, López YC, De León Luis JA, Hernández IC, Herraiz I, Villalain C, Venturella R, Rizzo G, Mappa I, Gerosolima G, Hellmeyer L, Königbauer J, Ameli G, Frusca T, Volpe N, Luca Schera GB, Fieni S, Esposito E, Simonazzi G, Di Donna G, Youssef A, Della Gatta AN, Di Donna MC, Chiantera V, Buono N, Sozzi G, Greco P, Morano D, Bianchi B, Lombana Marino MG, Laraud F, Ramone A, Cagnacci A, Barra F, Gustavino C, Ferrero S, Ghezzi F, Cromi A, Laganà AS, Laurita Longo V, Stollagli F, Sirico A, Lanzone A, Driul L, Cecchini D F, Xodo S, Rodriguez B, Mercado-Olivares F, Elkafrawi D, Sisti G, Esposito R, Coviello A, Cerbone M, Morlando M, Schiattarella A, Colacurci N, De Franciscis P, Cataneo I, Lenzi M, Sandri F, Buscemi R, Gattei G, Sala FD, Valori E, Rovellotti MC, Done E, Faron G, Gucciardo L, Esposito V, Vena F, Giancotti A, Brunelli R, Muzii L, Nappi L, Sorrentino F, Vasciaveo L, Liberati M, Buca D, Leombroni M, Di Sebastiano F, Di Tizio L, Gazzolo D, Franchi M, Ianniciello QC, Garzon S, Petriglia G, Borrello L, Nieto… See abstract for full author list ➔ Di Mascio D, et al. Among authors: aykanat ay. J Perinat Med. 2020 Nov 26;48(9):950-958. doi: 10.1515/jpm-2020-0355. J Perinat Med. 2020. PMID: 32975205 Free article.
Maternal and perinatal outcomes of pregnant women with SARS-CoV-2 infection.
WAPM (World Association of Perinatal Medicine) Working Group on COVID-19. WAPM (World Association of Perinatal Medicine) Working Group on COVID-19. Ultrasound Obstet Gynecol. 2021 Feb;57(2):232-241. doi: 10.1002/uog.23107. Epub 2021 Jan 21. Ultrasound Obstet Gynecol. 2021. PMID: 32926494 Free article.
20 results