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

Year Number of Results
2002 10
2003 4
2004 8
2005 18
2006 16
2007 15
2008 13
2009 9
2010 29
2011 13
2012 12
2013 16
2014 19
2015 7
2016 12
2017 9
2018 16
2019 18
2020 6
2021 13
2022 18
2023 8
2024 6

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267 results

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Page 1
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R. Zanetti A, et al. Among authors: lin sp. Hum Mutat. 2021 Nov;42(11):1384-1398. doi: 10.1002/humu.24270. Epub 2021 Aug 23. Hum Mutat. 2021. PMID: 34387910 Free PMC article. Review.
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: lin sp. 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.
Cri-du-chat syndrome.
Chang CY, Lin SP, Lin HY, Chen YJ, Kao HA, Yeung CY, Hsu CH, Chi H. Chang CY, et al. Among authors: lin sp. Acta Paediatr Taiwan. 2007 Nov-Dec;48(6):328-31. Acta Paediatr Taiwan. 2007. PMID: 18437967
Training in clinical genetics and genetic counseling in Asia.
Cutiongco-de la Paz EM, Chung BH, Faradz SMH, Thong MK, David-Padilla C, Lai PS, Lin SP, Chen YH, Sura T, Laurino M. Cutiongco-de la Paz EM, et al. Among authors: lin sp. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):177-186. doi: 10.1002/ajmg.c.31703. Epub 2019 Apr 29. Am J Med Genet C Semin Med Genet. 2019. PMID: 31037827 Review.
Targeting histone deacetylase in cancer therapy.
Lin HY, Chen CS, Lin SP, Weng JR, Chen CS. Lin HY, et al. Among authors: lin sp. Med Res Rev. 2006 Jul;26(4):397-413. doi: 10.1002/med.20056. Med Res Rev. 2006. PMID: 16450343 Review.
Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa.
Mitchell JJ, Burton BK, Bober MB, Campeau PM, Cohen S, Dosenovic S, Ellaway C, Bhattacharya K, Guffon N, Hinds D, Lail A, Lin SP, Magner M, Raiman J, Schwartz-Sagi L, Stepien KM. Mitchell JJ, et al. Among authors: lin sp. Mol Genet Metab. 2022 Sep-Oct;137(1-2):164-172. doi: 10.1016/j.ymgme.2022.08.007. Epub 2022 Aug 30. Mol Genet Metab. 2022. PMID: 36087504 Free article.
267 results