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

Year Number of Results
2002 1
2003 1
2004 1
2006 1
2007 1
2008 1
2010 2
2011 3
2012 1
2013 3
2014 4
2015 6
2016 4
2017 9
2018 5
2019 9
2020 9
2021 11
2022 14
2023 12
2024 7

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86 results

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Page 1
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P… See abstract for full author list ➔ Leiding JW, et al. Among authors: pruhova s. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
Variants influencing age at diagnosis of HNF1A-MODY.
Ludwig-Słomczyńska AH, Seweryn MT, Radkowski P, Kapusta P, Machlowska J, Pruhova S, Gasperikova D, Bellanne-Chantelot C, Hattersley A, Kandasamy B, Letourneau-Freiberg L, Philipson L, Doria A, Wołkow PP, Małecki MT, Klupa T. Ludwig-Słomczyńska AH, et al. Among authors: pruhova s. Mol Med. 2022 Sep 14;28(1):113. doi: 10.1186/s10020-022-00542-0. Mol Med. 2022. PMID: 36104811 Free PMC article.
Choledochal Cyst with 17q12 Chromosomal Duplication.
Kotalova R, Dusatkova P, Drabova J, Elblova L, Dedic T, Cinek O, Lebl J, Pruhova S. Kotalova R, et al. Among authors: pruhova s. Ann Hum Genet. 2018 Jan;82(1):48-51. doi: 10.1111/ahg.12221. Epub 2017 Sep 22. Ann Hum Genet. 2018. PMID: 28940454
Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?
Plachy L, Amaratunga SA, Dusatkova P, Maratova K, Neuman V, Petruzelkova L, Zemkova D, Obermannova B, Snajderova M, Kolouskova S, Sumnik Z, Lebl J, Pruhova S. Plachy L, et al. Among authors: pruhova s. Front Endocrinol (Lausanne). 2023 Jan 13;13:1102968. doi: 10.3389/fendo.2022.1102968. eCollection 2022. Front Endocrinol (Lausanne). 2023. PMID: 36714562 Free PMC article.
Are all HCL systems the same? long term outcomes of three HCL systems in children with type 1 diabetes: real-life registry-based study.
Santova A, Plachy L, Neuman V, Pavlikova M, Petruzelkova L, Konecna P, Venhacova P, Skvor J, Pomahacova R, Neumann D, Vosahlo J, Strnadel J, Kocourkova K, Obermannova B, Pruhova S, Cinek O, Sumnik Z. Santova A, et al. Among authors: pruhova s. Front Endocrinol (Lausanne). 2023 Oct 16;14:1283181. doi: 10.3389/fendo.2023.1283181. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37908748 Free PMC article.
86 results