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

Year Number of Results
2003 3
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2005 2
2006 4
2007 5
2008 2
2009 2
2010 1
2011 3
2012 3
2013 4
2014 5
2015 5
2016 2
2017 6
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2023 10
2024 2

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Page 1
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Braun DA, et al. Among authors: chang jh. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14. Nat Genet. 2017. PMID: 28805828 Free PMC article.
Congenital candidiasis.
Wang SM, Hsu CH, Chang JH. Wang SM, et al. Among authors: chang jh. Pediatr Neonatol. 2008 Jun;49(3):94-6. doi: 10.1016/S1875-9572(08)60020-0. Pediatr Neonatol. 2008. PMID: 18947006 Free article.
Prader-Willi syndrome in Taiwan.
Lin HY, Lin SP, Yen JL, Lee YJ, Huang CY, Hung HY, Hsu CH, Kao HA, Chang JH, Chiu NC, Ho CS, Chao MC, Niu DM, Tsai LP, Kuo PL. Lin HY, et al. Among authors: chang jh. Pediatr Int. 2007 Jun;49(3):375-9. doi: 10.1111/j.1442-200X.2007.02368.x. Pediatr Int. 2007. PMID: 17532839
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.
Lin PY, Tseng MH, Zenker M, Rao J, Hildebrandt F, Lin SH, Lin CC, Chang JH, Hsu CH, Lee MD, Lin SP, Tsai JD. Lin PY, et al. Among authors: chang jh. Orphanet J Rare Dis. 2018 Dec 17;13(1):226. doi: 10.1186/s13023-018-0961-9. Orphanet J Rare Dis. 2018. PMID: 30558655 Free PMC article.
80 results