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Results by year

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

Year Number of Results
1976 1
1977 3
1979 2
1981 1
1987 1
1990 1
1997 3
1999 2
2000 1
2001 1
2002 1
2003 1
2004 2
2005 1
2006 1
2007 2
2008 1
2009 3
2010 2
2011 2
2012 1
2013 2
2014 2
2016 3
2017 4
2018 4
2019 2
2020 2
2021 3
2022 2
2023 1
2024 0

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PubMed for id: 333557

52 results

Results by year

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Page 1
Case report: Late middle-aged features of FAM111A variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up.
Ohmachi Y, Urai S, Bando H, Yokoi J, Yamamoto M, Kanie K, Motomura Y, Tsujimoto Y, Sasaki Y, Oi Y, Yamamoto N, Suzuki M, Shichi H, Iguchi G, Uehara N, Fukuoka H, Ogawa W. Ohmachi Y, et al. Front Endocrinol (Lausanne). 2023 Jan 4;13:1073173. doi: 10.3389/fendo.2022.1073173. eCollection 2022. Front Endocrinol (Lausanne). 2023. PMID: 36686468 Free PMC article. Review.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Le TL, Sribudiani Y, Dong X, Huber C, Kois C, Baujat G, Gordon CT, Mayne V, Galmiche L, Serre V, Goudin N, Zarhrate M, Bole-Feysot C, Masson C, Nitschké P, Verheijen FW, Pais L, Pelet A, Sadedin S, Pugh JA, Shur N, White SM, El Chehadeh S, Christodoulou J, Cormier-Daire V, Hofstra RMW, Lyonnet S, Tan TY, Attié-Bitach T, Kerstjens-Frederikse WS, Amiel J, Thomas S. Le TL, et al. Am J Hum Genet. 2020 Jun 4;106(6):779-792. doi: 10.1016/j.ajhg.2020.04.010. Epub 2020 May 14. Am J Hum Genet. 2020. PMID: 32413283 Free PMC article.
52 results