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Results by year

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

Year Number of Results
1992 1
1995 1
1996 3
1998 1
1999 1
2000 1
2002 1
2003 2
2004 6
2005 3
2006 5
2007 4
2008 4
2009 8
2010 12
2011 7
2012 6
2013 9
2014 6
2015 6
2016 3
2017 6
2018 3
2019 9
2020 8
2021 9
2022 7
2023 4
2024 0

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Publication date

PubMed for id: 1808256

116 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.
Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.
Oheim R, Tsourdi E, Seefried L, Beller G, Schubach M, Vettorazzi E, Stürznickel J, Rolvien T, Ehmke N, Delsmann A, Genest F, Krüger U, Zemojtel T, Barvencik F, Schinke T, Jakob F, Hofbauer LC, Mundlos S, Kornak U. Oheim R, et al. J Clin Endocrinol Metab. 2022 Jun 16;107(7):e3048-e3057. doi: 10.1210/clinem/dgac147. J Clin Endocrinol Metab. 2022. PMID: 35276006 Free PMC article.
116 results