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

Year Number of Results
1997 1
2000 3
2002 1
2005 1
2006 1
2007 2
2008 1
2009 1
2015 3
2016 4
2017 6
2018 2
2019 4
2020 4
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29 results
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Page 1
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
Mayer AK, Van Cauwenbergh C, Rother C, Baumann B, Reuter P, De Baere E, Wissinger B, Kohl S; ACHM Study Group. Mayer AK, et al. Hum Mutat. 2017 Nov;38(11):1579-1591. doi: 10.1002/humu.23311. Epub 2017 Aug 28. Hum Mutat. 2017. PMID: 28795510
CDHR1 mutations in retinal dystrophies.
Stingl K, Mayer AK, Llavona P, Mulahasanovic L, Rudolph G, Jacobson SG, Zrenner E, Kohl S, Wissinger B, Weisschuh N. Stingl K, et al. Among authors: Mayer AK. Sci Rep. 2017 Aug 1;7(1):6992. doi: 10.1038/s41598-017-07117-8. Sci Rep. 2017. PMID: 28765526 Free PMC article.
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome.
Kamme C, Mayer AK, Strom TM, Andréasson S, Weisschuh N. Kamme C, et al. Among authors: Mayer AK. Acta Ophthalmol. 2017 May;95(3):e250-e252. doi: 10.1111/aos.13293. Epub 2016 Nov 23. Acta Ophthalmol. 2017. PMID: 27879052 Free PMC article. No abstract available.
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.
Burkard M, Kohl S, Krätzig T, Tanimoto N, Brennenstuhl C, Bausch AE, Junger K, Reuter P, Sothilingam V, Beck SC, Huber G, Ding XQ, Mayer AK, Baumann B, Weisschuh N, Zobor D, Hahn GA, Kellner U, Venturelli S, Becirovic E, Charbel Issa P, Koenekoop RK, Rudolph G, Heckenlively J, Sieving P, Weleber RG, Hamel C, Zong X, Biel M, Lukowski R, Seeliger MW, Michalakis S, Wissinger B, Ruth P. Burkard M, et al. Among authors: Mayer AK. J Clin Invest. 2018 Dec 3;128(12):5663-5675. doi: 10.1172/JCI96098. Epub 2018 Nov 12. J Clin Invest. 2018. PMID: 30418171 Free PMC article.
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation.
Mayer AK, Rohrschneider K, Strom TM, Glöckle N, Kohl S, Wissinger B, Weisschuh N. Mayer AK, et al. Eur J Hum Genet. 2016 Mar;24(3):459-62. doi: 10.1038/ejhg.2015.144. Epub 2015 Jul 8. Eur J Hum Genet. 2016. PMID: 26153215 Free PMC article.
Vessel shape alterations of the vertebrobasilar arteries in Mucopolysaccharidosis type IVa (Morquio A) patients.
Tanyildizi Y, Gökce S, Marini F, Mayer AK, Kirschner S, Hennermann JB, Brockmann MA. Tanyildizi Y, et al. Among authors: Mayer AK. Eur J Radiol. 2017 Aug;93:128-133. doi: 10.1016/j.ejrad.2017.05.026. Epub 2017 May 23. Eur J Radiol. 2017. PMID: 28668406
Epistemic beliefs as predictors of epistemic emotions: Extending a theoretical model.
Rosman T, Mayer AK. Rosman T, et al. Among authors: Mayer AK. Br J Educ Psychol. 2018 Sep;88(3):410-427. doi: 10.1111/bjep.12191. Epub 2017 Sep 21. Br J Educ Psychol. 2018. PMID: 28940233
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Weisschuh N, Mayer AK, Strom TM, Kohl S, Glöckle N, Schubach M, Andreasson S, Bernd A, Birch DG, Hamel CP, Heckenlively JR, Jacobson SG, Kamme C, Kellner U, Kunstmann E, Maffei P, Reiff CM, Rohrschneider K, Rosenberg T, Rudolph G, Vámos R, Varsányi B, Weleber RG, Wissinger B. Weisschuh N, et al. Among authors: Mayer AK. PLoS One. 2016 Jan 14;11(1):e0145951. doi: 10.1371/journal.pone.0145951. eCollection 2016. PLoS One. 2016. PMID: 26766544 Free PMC article.
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.
Mayer AK, Mahajnah M, Thomas MG, Cohen Y, Habib A, Schulze M, Maconachie GDE, AlMoallem B, De Baere E, Lorenz B, Traboulsi EI, Kohl S, Azem A, Bauer P, Gottlob I, Sharkia R, Wissinger B. Mayer AK, et al. Brain. 2019 Jun 1;142(6):1528-1534. doi: 10.1093/brain/awz098. Brain. 2019. PMID: 31009037 Free PMC article.
Vulnerability of frontal brain neurons for the toxicity of expanded ataxin-3.
Schmidt J, Mayer AK, Bakula D, Freude J, Weber JJ, Weiss A, Riess O, Schmidt T. Schmidt J, et al. Among authors: Mayer AK. Hum Mol Genet. 2019 May 1;28(9):1463-1473. doi: 10.1093/hmg/ddy437. Hum Mol Genet. 2019. PMID: 30576445
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