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Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Quinodoz M, Kaminska K, Cancellieri F, Han JH, Peter VG, Celik E, Janeschitz-Kriegl L, Schärer N, Hauenstein D, György B, Calzetti G, Hahaut V, Custódio S, Sousa AC, Wada Y, Murakami Y, Fernández AA, Hernández CR, Minguez P, Ayuso C, Nishiguchi KM, Santos C, Santos LC, Tran VH, Vaclavik V, Scholl HPN, Rivolta C. Quinodoz M, et al. Among authors: fernandez aa. Am J Hum Genet. 2024 Apr 4;111(4):701-713. doi: 10.1016/j.ajhg.2024.03.001. Epub 2024 Mar 25. Am J Hum Genet. 2024. PMID: 38531366 Free PMC article.
The enduring enigma of sporadic chorea: A single center case series.
Garcia Ruiz PJ, Feliz LD, Feliz CE, Sanchez IL, Fernandez AA, Kelly FB, Tiebas MJT, Del Val J, Vinagre IN. Garcia Ruiz PJ, et al. Among authors: fernandez aa. Tremor Other Hyperkinet Mov (N Y). 2023 Sep 7;13:33. doi: 10.5334/tohm.800. eCollection 2023. Tremor Other Hyperkinet Mov (N Y). 2023. PMID: 37692071 Free PMC article.
The ageing of people living with cystic fibrosis: what to expect now?
Felipe Montiel A, Fernández AÁ, Amigo MC, Traversi L, Clofent Alarcón D, Reyes KL, Polverino E. Felipe Montiel A, et al. Among authors: fernandez aa. Eur Respir Rev. 2024 Oct 30;33(174):240071. doi: 10.1183/16000617.0071-2024. Print 2024 Oct. Eur Respir Rev. 2024. PMID: 39477350 Free PMC article. Review.
Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study.
Semenchuk J, Naito Y, Charman SC, Carr SB, Cheng SY, Marshall BC, Faro A, Elbert A, Gutierrez HH, Goss CH, Karadag B, Burgel PR, Colombo C, Salvatore M, Padoan R, Daneau G, Harutyunyan S, Kashirskaya N, Kirwan L, Middleton PG, Ruseckaite R, de Monestrol I, Naehrlich L, Mondejar-Lopez P, Jung A, van Rens J, Bakkeheim E, Orenti A, Zomer-van Ommen D, da Silva-Filho LVR, Fernandes FF, Zampoli M, Stephenson AL; Global CF Registry Collaboration. Semenchuk J, et al. J Cyst Fibros. 2024 Sep;23(5):815-822. doi: 10.1016/j.jcf.2024.07.019. Epub 2024 Aug 26. J Cyst Fibros. 2024. PMID: 39191560 Free article.
Malignant Pleural Mesothelioma: Analysis of 70 Cases in the Last Decade.
Garcia-Prieto F, Pardo SC, Ramírez MTR, Fernández AA. Garcia-Prieto F, et al. Among authors: fernandez aa. Open Respir Arch. 2024 Apr 23;6(2):100326. doi: 10.1016/j.opresp.2024.100326. eCollection 2024 Apr-Jun. Open Respir Arch. 2024. PMID: 38746541 Free PMC article. No abstract available.
Measurement of the top quark mass using a profile likelihood approach with the lepton + jets final states in proton-proton collisions at s=13TeV.
Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, Damanakis K, Dragicevic M, Del Valle AE, Hussain PS, Jeitler M, Krammer N, Lechner L, Liko D, Mikulec I, Paulitsch P, Pitters FM, Schieck J, Schöfbeck R, Schwarz D, Sonawane M, Templ S, Waltenberger W, Wulz CE, Darwish MR, Janssen T, Kello T, Sfar HR, Van Mechelen P, Bols ES, D'Hondt J, De Moor A, Delcourt M, El Faham H, Lowette S, Moortgat S, Morton A, Müller D, Sahasransu AR, Tavernier S, Van Doninck W, Vannerom D, Clerbaux B, De Lentdecker G, Favart L, Hohov D, Jaramillo J, Lee K, Mahdavikhorrami M, Makarenko I, Malara A, Paredes S, Pétré L, Postiau N, Thomas L, Vanden Bemden M, Vander Velde C, Vanlaer P, Dobur D, Knolle J, Lambrecht L, Mestdach G, Rendón C, Samalan A, Skovpen K, Tytgat M, Van Den Bossche N, Vermassen B, Wezenbeek L, Benecke A, Bruno G, Bury F, Caputo C, David P, Delaere C, Donertas IS, Giammanco A, Jaffel K, Jain S, Lemaitre V, Mondal K, Taliercio A, Tran TT, Vischia P, Wertz S, Alves GA, Coelho E, Hensel C, Moraes A, Teles PR, Júnior WLA, Pereira MAG, Filho MBF, Malbouisson HB, Carvalho W, Chinellato J, Da Costa EM, Da Silveira GG, De Jesus Damiao D, Dos Santos Sousa V, De Souza SF, Martins J, Herr… See abstract for full author list ➔ Tumasyan A, et al. Among authors: fernandez aa. Eur Phys J C Part Fields. 2023;83(10):963. doi: 10.1140/epjc/s10052-023-12050-4. Epub 2023 Oct 25. Eur Phys J C Part Fields. 2023. PMID: 37906635 Free PMC article.
181 results