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

Year Number of Results
1993 2
1994 1
1996 2
1998 2
1999 1
2001 2
2002 2
2003 3
2004 2
2005 2
2006 3
2009 2
2010 1
2011 3
2012 1
2014 2
2015 5
2016 6
2017 4
2018 4
2019 5
2020 5
2021 2
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PubMed Links for id: 5190

53 results
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Page 1
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.
García-García G, Sanchez-Navarro I, Aller E, Jaijo T, Fuster-Garcia C, Rodríguez-Munoz A, Vallejo E, Tellería JJ, Vázquez S, Beltrán S, Derdak S, Zurita O, Villaverde-Montero C, Avila-Fernández A, Corton M, Blanco-Kelly F, Hakonarson H, Millán JM, Ayuso C. García-García G, et al. Mol Vis. 2020 Mar 18;26:216-225. eCollection 2020. Mol Vis. 2020. PMID: 32214787 Free PMC article.
Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.
Wangtiraumnuay N, Alnabi WA, Tsukikawa M, Thau A, Capasso J, Sharony R, Inglehearn CF, Levin AV. Wangtiraumnuay N, et al. Ophthalmic Genet. 2018 Jun;39(3):384-390. doi: 10.1080/13816810.2018.1432063. Ophthalmic Genet. 2018. PMID: 29676688
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
Falkenberg KD, Braverman NE, Moser AB, Steinberg SJ, Klouwer FCC, Schlüter A, Ruiz M, Pujol A, Engvall M, Naess K, van Spronsen F, Körver-Keularts I, Rubio-Gozalbo ME, Ferdinandusse S, Wanders RJA, Waterham HR. Falkenberg KD, et al. Am J Hum Genet. 2017 Dec 7;101(6):965-976. doi: 10.1016/j.ajhg.2017.11.007. Am J Hum Genet. 2017. PMID: 29220678 Free PMC article.
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.
Raas-Rothschild A, Wanders RJ, Mooijer PA, Gootjes J, Waterham HR, Gutman A, Suzuki Y, Shimozawa N, Kondo N, Eshel G, Espeel M, Roels F, Korman SH. Raas-Rothschild A, et al. Am J Hum Genet. 2002 Apr;70(4):1062-8. doi: 10.1086/339766. Epub 2002 Feb 28. Am J Hum Genet. 2002. PMID: 11873320 Free PMC article.
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