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

Year Number of Results
2002 5
2003 3
2004 6
2005 4
2006 3
2007 4
2008 8
2009 4
2010 4
2011 3
2012 3
2013 3
2014 4
2015 3
2016 6
2017 5
2018 3
2019 2
2021 6
2022 13
2023 10
2024 3

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96 results

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Page 1
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
Sörmann J, Schewe M, Proks P, Jouen-Tachoire T, Rao S, Riel EB, Agre KE, Begtrup A, Dean J, Descartes M, Fischer J, Gardham A, Lahner C, Mark PR, Muppidi S, Pichurin PN, Porrmann J, Schallner J, Smith K, Straub V, Vasudevan P, Willaert R, Carpenter EP, Rödström KEJ, Hahn MG, Müller T, Baukrowitz T, Hurles ME, Wright CF, Tucker SJ. Sörmann J, et al. Among authors: fischer j. Nat Genet. 2022 Oct;54(10):1534-1543. doi: 10.1038/s41588-022-01185-x. Epub 2022 Oct 4. Nat Genet. 2022. PMID: 36195757 Free PMC article.
Skin-Derived SPINK9 Kills Escherichia coli.
Wu Z, Wu Y, Fischer J, Bartels J, Schröder JM, Meyer-Hoffert U. Wu Z, et al. Among authors: fischer j. J Invest Dermatol. 2019 May;139(5):1135-1142. doi: 10.1016/j.jid.2018.11.004. Epub 2018 Nov 20. J Invest Dermatol. 2019. PMID: 30468739 Free article.
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Harms FL, Dingemans AJM, Hempel M, Pfundt R, Bierhals T, Casar C, Müller C, Niermeijer JF, Fischer J, Jahn A, Hübner C, Majore S, Agolini E, Novelli A, van der Smagt J, Ernst R, van Binsbergen E, Mancini GMS, van Slegtenhorst M, Barakat TS, Wakeling EL, Kamath A, Downie L, Pais L, White SM, de Vries BBA, Kutsche K. Harms FL, et al. Among authors: fischer j. Genet Med. 2023 Oct;25(10):100927. doi: 10.1016/j.gim.2023.100927. Epub 2023 Jul 6. Genet Med. 2023. PMID: 37422718
Genetic Modification of Brain Organoids.
Fischer J, Heide M, Huttner WB. Fischer J, et al. Front Cell Neurosci. 2019 Dec 17;13:558. doi: 10.3389/fncel.2019.00558. eCollection 2019. Front Cell Neurosci. 2019. PMID: 31920558 Free PMC article.
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Harms FL, Dingemans AJM, Hempel M, Pfundt R, Bierhals T, Casar C, Müller C, Niermeijer JF, Fischer J, Jahn A, Hübner C, Majore S, Agolini E, Novelli A, van der Smagt J, Ernst R, van Binsbergen E, Mancini GMS, van Slegtenhorst M, Barakat TS, Wakeling EL, Kamath A, Downie L, Pais L, White SM, de Vries BBA, Kutsche K. Harms FL, et al. Among authors: fischer j. Genet Med. 2023 Nov;25(11):100964. doi: 10.1016/j.gim.2023.100964. Epub 2023 Sep 19. Genet Med. 2023. PMID: 37728613 No abstract available.
Chloromethane emissions in human breath.
Keppler F, Fischer J, Sattler T, Polag D, Jaeger N, Schöler HF, Greule M. Keppler F, et al. Among authors: fischer j. Sci Total Environ. 2017 Dec 15;605-606:405-410. doi: 10.1016/j.scitotenv.2017.06.202. Epub 2017 Jun 30. Sci Total Environ. 2017. PMID: 28672229
Effects of Prolonged Fasting during Inpatient Multimodal Treatment on Pain and Functional Parameters in Knee and Hip Osteoarthritis: A Prospective Exploratory Observational Study.
Koppold DA, Kandil FI, Güttler O, Müller A, Steckhan N, Meiß S, Breinlinger C, Nelle E, Hartmann AM, Jeitler M, Hanslian E, Fischer JM, Michalsen A, Kessler CS. Koppold DA, et al. Among authors: fischer jm. Nutrients. 2023 Jun 9;15(12):2695. doi: 10.3390/nu15122695. Nutrients. 2023. PMID: 37375597 Free PMC article.
96 results