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Results by year

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

Year Number of Results
1980 1
1993 1
1998 1
1999 1
2001 2
2002 2
2003 2
2004 3
2005 2
2006 5
2008 1
2010 2
2011 3
2012 3
2013 4
2014 1
2015 2
2016 2
2017 3
2018 4
2019 3
2020 4
2021 7
2022 6
2023 2

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PubMed (Bookshelf cited) for id: 1727728

61 results

Results by year

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Page 1
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.
Frohne A, Koenighofer M, Cetin H, Nieratschker M, Liu DT, Laccone F, Neesen J, Nemec SF, Schwarz-Nemec U, Schoefer C, Avraham KB, Frei K, Grabmeier-Pfistershammer K, Kratzer B, Schmetterer K, Pickl WF, Parzefall T. Frohne A, et al. Hum Genet. 2023 Aug;142(8):1077-1089. doi: 10.1007/s00439-022-02506-0. Epub 2022 Nov 29. Hum Genet. 2023. PMID: 36445457 Free PMC article.
Hermansky-Pudlak syndrome: Gene therapy for pulmonary fibrosis.
Nieto-Alamilla G, Behan M, Hossain M, Gochuico BR, Malicdan MCV. Nieto-Alamilla G, et al. Mol Genet Metab. 2022 Sep-Oct;137(1-2):187-191. doi: 10.1016/j.ymgme.2022.08.008. Epub 2022 Sep 2. Mol Genet Metab. 2022. PMID: 36088816
New insights into the pathogenesis of Hermansky-Pudlak syndrome.
Li W, Hao CJ, Hao ZH, Ma J, Wang QC, Yuan YF, Gong JJ, Chen YY, Yu JY, Wei AH. Li W, et al. Pigment Cell Melanoma Res. 2022 May;35(3):290-302. doi: 10.1111/pcmr.13030. Epub 2022 Feb 13. Pigment Cell Melanoma Res. 2022. PMID: 35129281 Review.
Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics.
Velázquez-Díaz P, Nakajima E, Sorkhdini P, Hernandez-Gutierrez A, Eberle A, Yang D, Zhou Y. Velázquez-Díaz P, et al. Front Pharmacol. 2021 Mar 18;12:644671. doi: 10.3389/fphar.2021.644671. eCollection 2021. Front Pharmacol. 2021. PMID: 33841163 Free PMC article. Review.
61 results