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A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.
Eisfeldt J, Ameur A, Lenner F, Ten Berk de Boer E, Ek M, Wincent J, Vaz R, Ottosson J, Jonson T, Ivarsson S, Thunström S, Topa A, Stenberg S, Rohlin A, Sandestig A, Nordling M, Palmebäck P, Burstedt M, Nordin F, Stattin EL, Sobol M, Baliakas P, Bondeson ML, Höijer I, Saether KB, Lovmar L, Ehrencrona H, Melin M, Feuk L, Lindstrand A. Eisfeldt J, et al. Among authors: topa a. Genome Res. 2024 Nov 20;34(11):1774-1784. doi: 10.1101/gr.279510.124. Genome Res. 2024. PMID: 39472022 Free PMC article.
The value of genome-wide analysis in craniosynostosis.
Topa A, Rohlin A, Fehr A, Lovmar L, Stenman G, Tarnow P, Maltese G, Bhatti-Søfteland M, Kölby L. Topa A, et al. Front Genet. 2024 Jan 22;14:1322462. doi: 10.3389/fgene.2023.1322462. eCollection 2023. Front Genet. 2024. PMID: 38318288 Free PMC article.
Does training on the WHO package of essential noncommunicable (PEN) disease interventions enhance consultation quality? A real-world assessment of adherence to PEN protocol in primary health centres in the Republic of Moldova.
Kempers J, Rotaru C, Topa A, Zarbailov N, Curteanu A, Prytherch H. Kempers J, et al. Among authors: topa a. Glob Health Action. 2023 Dec 31;16(1):2285619. doi: 10.1080/16549716.2023.2285619. Epub 2023 Nov 30. Glob Health Action. 2023. PMID: 38032682 Free PMC article.
Frequency of diabetes and other comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy and their impact on clinical presentation and response to therapy.
Doneddu PE, Cocito D, Manganelli F, Fazio R, Briani C, Filosto M, Benedetti L, Bianchi E, Jann S, Mazzeo A, Antonini G, Cosentino G, Marfia GA, Cortese A, Clerici AM, Carpo M, Schenone A, Siciliano G, Luigetti M, Lauria G, Rosso T, Cavaletti G, Beghi E, Liberatore G, Santoro L, Spina E, Peci E, Tronci S, Ruiz M, Cotti Piccinelli S, Verrengia EP, Gentile L, Leonardi L, Mataluni G, Piccolo L, Nobile-Orazio E; Italian CIDP Database study group. Doneddu PE, et al. J Neurol Neurosurg Psychiatry. 2020 Oct;91(10):1092-1099. doi: 10.1136/jnnp-2020-323615. Epub 2020 Aug 31. J Neurol Neurosurg Psychiatry. 2020. PMID: 32868387 Free article.
Impact of environmental factors and physical activity on disability and quality of life in CIDP.
Doneddu PE, Bianchi E, Cocito D, Manganelli F, Fazio R, Filosto M, Beghi E, Mazzeo A, Cosentino G, Cortese A, Jann S, Clerici AM, Antonini G, Siciliano G, Marfia GA, Briani C, Lauria G, Rosso T, Cavaletti G, Carpo M, Benedetti L, Schenone A, Liberatore G, Peci E, Spina E, Tronci S, Cotti Piccinelli S, Toscano A, Gentile L, Piccolo L, Leonardi L, Mataluni G, Ruiz M, Sabatelli M, Santoro L, Nobile-Orazio E; Italian CIDP Database Study Group. Doneddu PE, et al. J Neurol. 2020 Sep;267(9):2683-2691. doi: 10.1007/s00415-020-09916-y. Epub 2020 May 19. J Neurol. 2020. PMID: 32430573 Free article.
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