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

Year Number of Results
2003 1
2007 1
2009 6
2010 2
2011 1
2012 7
2013 1
2014 3
2015 4
2016 6
2018 1
2019 2
2021 0
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32 results
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Page 1
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez MJ, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M. Kouz K, et al. Among authors: puchmajerova a. Genet Med. 2016 Dec;18(12):1226-1234. doi: 10.1038/gim.2016.32. Epub 2016 Apr 21. Genet Med. 2016. PMID: 27101134
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.
Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K. Rudnik-Schöneborn S, et al. Among authors: puchmajerova a. Neurology. 2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2. Neurology. 2013. PMID: 23284067 Free PMC article.
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R, Pinková B, Réblová K, Bučková H, Kopečková L, Němečková J, Puchmajerová A, Malíková M, Hermanová M, Fajkusová L. Borská R, et al. Among authors: puchmajerova a. Orphanet J Rare Dis. 2019 May 2;14(1):92. doi: 10.1186/s13023-019-1076-7. Orphanet J Rare Dis. 2019. PMID: 31046801 Free PMC article.
[Cowden syndrome].
Puchmajerová A, Vasovcák P, Krepelová A, Plevová P. Puchmajerová A, et al. Klin Onkol. 2009;22 Suppl:S56-7. Klin Onkol. 2009. PMID: 19764399 Review. Czech. No abstract available.
[Birt-Hogg-Dubé syndrome].
Křepelová A, Puchmajerová A, Vasovčák P, Chocholatý M. Křepelová A, et al. Among authors: puchmajerova a. Klin Onkol. 2012;25 Suppl:S18-20. Klin Onkol. 2012. PMID: 22920201 Czech.
[Rhabdoid tumours].
Vasovčák P, Puchmajerová A, Křepelová A. Vasovčák P, et al. Among authors: puchmajerova a. Klin Onkol. 2012;25 Suppl:S27-9. Klin Onkol. 2012. PMID: 22920203 Slovak.
[Peutz-Jeghers syndrome].
Puchmajerová A, Vasovák P, Krepelová A. Puchmajerová A, et al. Klin Onkol. 2009;22 Suppl:S36-7. Klin Onkol. 2009. PMID: 19764394 Review. Czech. No abstract available.
[Gorlin syndrome].
Plevová P, Krutílková V, Puchmajerová A, Foretová L. Plevová P, et al. Among authors: puchmajerova a. Klin Onkol. 2009;22 Suppl:S34-5. Klin Onkol. 2009. PMID: 19764393 Review. Czech. No abstract available.
[Hepatoblastoma, Etiology, Case Reports].
Puchmajerová A, Křepelová A, Indráková J, Sítková R, Balaščak I, Kruseová J, Švojgr K, Kodet R, Kynčl M, Vícha A, Macek M Jr. Puchmajerová A, et al. Klin Onkol. 2016;29 Suppl 1:S78-82. doi: 10.14735/amko2016s78. Klin Onkol. 2016. PMID: 26691946 Czech.
32 results
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