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

Year Number of Results
1993 1
2003 4
2005 2
2007 3
2008 2
2009 2
2011 1
2012 2
2013 3
2014 5
2015 2
2016 4
2017 4
2018 4
2019 6
2020 3
2021 6
2022 10
2023 8
2024 4

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67 results

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Page 1
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.
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.
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, Bean LJH, Gripp KW, 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, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 27831681 Free Books & Documents. Review.
Next-generation reference intervals for pediatric hematology.
Zierk J, Hirschmann J, Toddenroth D, Arzideh F, Haeckel R, Bertram A, Cario H, Frühwald MC, Groß HJ, Groening A, Grützner S, Gscheidmeier T, Hoff T, Hoffmann R, Klauke R, Krebs A, Lichtinghagen R, Mühlenbrock-Lenter S, Neumann M, Nöllke P, Niemeyer CM, Razum O, Ruf HG, Steigerwald U, Streichert T, Torge A, Rascher W, Prokosch HU, Rauh M, Metzler M. Zierk J, et al. Among authors: cario h. Clin Chem Lab Med. 2019 Sep 25;57(10):1595-1607. doi: 10.1515/cclm-2018-1236. Clin Chem Lab Med. 2019. PMID: 31005947
Pediatric reference intervals for alkaline phosphatase.
Zierk J, Arzideh F, Haeckel R, Cario H, Frühwald MC, Groß HJ, Gscheidmeier T, Hoffmann R, Krebs A, Lichtinghagen R, Neumann M, Ruf HG, Steigerwald U, Streichert T, Rascher W, Metzler M, Rauh M. Zierk J, et al. Among authors: cario h. Clin Chem Lab Med. 2017 Jan 1;55(1):102-110. doi: 10.1515/cclm-2016-0318. Clin Chem Lab Med. 2017. PMID: 27505090 Free article.
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.
67 results