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

Year Number of Results
1993 1
1998 4
1999 2
2000 1
2002 1
2003 4
2004 2
2005 3
2007 5
2008 2
2009 3
2010 2
2011 2
2012 4
2013 3
2014 5
2015 2
2016 6
2017 4
2018 4
2019 6
2020 3
2021 7
2022 11
2023 8
2024 6

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91 results

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Page 1
Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.
Stockklausner C, Duffert CM, Cario H, Knöfler R, Streif W, Kulozik AE; THROMKID-Plus Studiengruppe der Gesellschaft für Thrombose- und Hämostaseforschung (GTH) and of Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH). Stockklausner C, et al. Among authors: cario h. Ann Hematol. 2021 Jul;100(7):1647-1665. doi: 10.1007/s00277-021-04485-0. Epub 2021 Mar 12. Ann Hematol. 2021. PMID: 33712866 Free PMC article. Review.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: cario h. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
LNK mutations and myeloproliferative disorders.
McMullin MF, Cario H. McMullin MF, et al. Among authors: cario h. Am J Hematol. 2016 Feb;91(2):248-51. doi: 10.1002/ajh.24259. Am J Hematol. 2016. PMID: 26660394 Free article. Review.
Primary Familial and Congenital Polycythemia.
Bento C, McMullin MF, Percy M, Cario H. Bento C, et al. Among authors: cario h. 2016 Nov 10. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2016 Nov 10. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 27831681 Free Books & Documents. Review.
Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design.
Hebestreit H, Lapstich AM, Brandstetter L, Krauth C, Deckert J, Haas K, Pfister L, Witt S, Schippers C, Dieris-Hirche J, Maisch T, Tüscher O, Bârlescu L, Berger A, Berneburg M, Britz V, Deibele A, Graeßner H, Gündel H, Heuft G, Lücke T, Mundlos C, Quitmann J, Rutsch F, Schubert K, Schulz JB, Schweiger S, Zeidler C, Zeltner L, de Zwaan M; ZSE-DUO Working Group. Hebestreit H, et al. EClinicalMedicine. 2023 Oct 6;65:102260. doi: 10.1016/j.eclinm.2023.102260. eCollection 2023 Nov. EClinicalMedicine. 2023. PMID: 37855024 Free PMC article.
91 results