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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 1
2005 1
2007 2
2012 2
2013 1
2014 6
2015 6
2016 3
2017 5
2018 2
2019 5
2020 8
2022 1
2023 2
2024 1

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38 results

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Page 1
Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
Morinière V, Dahan K, Hilbert P, Lison M, Lebbah S, Topa A, Bole-Feysot C, Pruvost S, Nitschke P, Plaisier E, Knebelmann B, Macher MA, Noel LH, Gubler MC, Antignac C, Heidet L. Morinière V, et al. Among authors: topa a. J Am Soc Nephrol. 2014 Dec;25(12):2740-51. doi: 10.1681/ASN.2013080912. Epub 2014 May 22. J Am Soc Nephrol. 2014. PMID: 24854265 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.
CTNND2-a candidate gene for reading problems and mild intellectual disability.
Hofmeister W, Nilsson D, Topa A, Anderlid BM, Darki F, Matsson H, Tapia Páez I, Klingberg T, Samuelsson L, Wirta V, Vezzi F, Kere J, Nordenskjöld M, Syk Lundberg E, Lindstrand A. Hofmeister W, et al. Among authors: topa a. J Med Genet. 2015 Feb;52(2):111-22. doi: 10.1136/jmedgenet-2014-102757. Epub 2014 Dec 3. J Med Genet. 2015. PMID: 25473103
Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: Clinical relevance of IgG isotype.
Cortese A, Lombardi R, Briani C, Callegari I, Benedetti L, Manganelli F, Luigetti M, Ferrari S, Clerici AM, Marfia GA, Rigamonti A, Carpo M, Fazio R, Corbo M, Mazzeo A, Giannini F, Cosentino G, Zardini E, Currò R, Gastaldi M, Vegezzi E, Alfonsi E, Berardinelli A, Kouton L, Manso C, Giannotta C, Doneddu P, Dacci P, Piccolo L, Ruiz M, Salvalaggio A, De Michelis C, Spina E, Topa A, Bisogni G, Romano A, Mariotto S, Mataluni G, Cerri F, Stancanelli C, Sabatelli M, Schenone A, Marchioni E, Lauria G, Nobile-Orazio E, Devaux J, Franciotta D. Cortese A, et al. Among authors: topa a. Neurol Neuroimmunol Neuroinflamm. 2019 Nov 21;7(1):e639. doi: 10.1212/NXI.0000000000000639. Print 2020 Jan. Neurol Neuroimmunol Neuroinflamm. 2019. PMID: 31753915 Free PMC article.
Advanced basal cell carcinoma: when a good drug is not enough.
De Giorgi V, Savarese I, Gori A, Scarfi F, Topa A, Trane L, Portelli F, Innocenti A, Covarelli P. De Giorgi V, et al. Among authors: topa a. J Dermatolog Treat. 2020 Sep;31(6):552-553. doi: 10.1080/09546634.2018.1542481. Epub 2020 Jan 7. J Dermatolog Treat. 2020. PMID: 30388924 No abstract available.
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.
Manganelli F, Pisciotta C, Nolano M, Capponi S, Geroldi A, Topa A, Bellone E, Suls A, Mandich P, Santoro L. Manganelli F, et al. Among authors: topa a. J Peripher Nerv Syst. 2012 Sep;17(3):351-5. doi: 10.1111/j.1529-8027.2012.00414.x. J Peripher Nerv Syst. 2012. PMID: 22971097
38 results