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

Year Number of Results
2003 1
2004 5
2005 3
2007 3
2008 2
2009 3
2010 5
2011 10
2012 5
2013 6
2014 7
2015 9
2016 9
2017 12
2018 10
2019 7
2020 10
2021 10
2022 1
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Search Results

105 results
Results by year
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Page 1
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Sekiguchi F, et al. Among authors: nagasaki k. J Hum Genet. 2019 Dec;64(12):1173-1186. doi: 10.1038/s10038-019-0667-4. Epub 2019 Sep 17. J Hum Genet. 2019. PMID: 31530938
Carotenoderma with hypothyroidism.
Sawano K, Nagasaki K. Sawano K, et al. Among authors: nagasaki k. Arch Dis Child. 2021 Nov 12:archdischild-2021-323051. doi: 10.1136/archdischild-2021-323051. Online ahead of print. Arch Dis Child. 2021. PMID: 34772661 No abstract available.
Criteria for radiologic diagnosis of hypochondroplasia in neonates.
Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A. Saito T, et al. Among authors: nagasaki k. Pediatr Radiol. 2016 Apr;46(4):513-8. doi: 10.1007/s00247-015-3518-2. Epub 2016 Feb 11. Pediatr Radiol. 2016. PMID: 26867606
105 results