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

Year Number of Results
1983 1
1988 1
1989 1
1992 1
1997 2
1998 1
2000 1
2001 2
2002 1
2004 2
2005 4
2006 3
2007 2
2008 4
2009 5
2010 2
2011 10
2012 5
2013 6
2014 8
2015 4
2016 9
2017 9
2018 12
2019 18
2020 19
2021 19
2022 30
2023 7
2024 0

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Similar articles for PMID: 30561130

161 results

Results by year

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Page 1
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman-Iwanowska A, Hanley J, Forneris F, Strohal R, Ulz P, Crumrine D, Menon GK, Blunder S, Schmuth M, Müller T, Smith H, Mills K, Kroisel P, Janecke AR, Gissen P. Gruber R, et al. J Invest Dermatol. 2017 Apr;137(4):845-854. doi: 10.1016/j.jid.2016.12.010. Epub 2016 Dec 23. J Invest Dermatol. 2017. PMID: 28017832 Free PMC article. Review.
A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.
Youssefian L, Vahidnezhad H, Saeidian AH, Mahmoudi H, Karamzadeh R, Kariminejad A, Huang J, Li L, Jannace TF, Fortina P, Zeinali S, White TW, Uitto J. Youssefian L, et al. Hum Mutat. 2019 Feb;40(2):217-229. doi: 10.1002/humu.23686. Epub 2018 Dec 1. Hum Mutat. 2019. PMID: 30431684 Free PMC article.
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Smith H, Galmes R, Gogolina E, Straatman-Iwanowska A, Reay K, Banushi B, Bruce CK, Cullinane AR, Romero R, Chang R, Ackermann O, Baumann C, Cangul H, Cakmak Celik F, Aygun C, Coward R, Dionisi-Vici C, Sibbles B, Inward C, Kim CA, Klumperman J, Knisely AS, Watson SP, Gissen P. Smith H, et al. Hum Mutat. 2012 Dec;33(12):1656-64. doi: 10.1002/humu.22155. Epub 2012 Aug 6. Hum Mutat. 2012. PMID: 22753090 Free PMC article.
161 results