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

Year Number of Results
1993 1
1997 1
1999 2
2005 2
2008 1
2009 2
2010 2
2011 4
2013 4
2014 7
2015 6
2016 6
2017 7
2018 6
2019 16
2020 17
2021 15
2022 20
2023 6
2024 0

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Similar articles for PMID: 30525118

109 results

Results by year

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Page 1
PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.
Shiraku H, Nakashima M, Takeshita S, Khoo CS, Haniffa M, Ch'ng GS, Takada K, Nakajima K, Ohta M, Okanishi T, Kanai S, Fujimoto A, Saitsu H, Matsumoto N, Kato M. Shiraku H, et al. Epilepsia Open. 2018 Nov 1;3(4):495-502. doi: 10.1002/epi4.12272. eCollection 2018 Dec. Epilepsia Open. 2018. PMID: 30525118 Free PMC article.
PLPBP Deficiency.
Al-Shekaili H, Ciapaite J, van Karnebeek C, Pena I. Al-Shekaili H, et al. 2023 Feb 16. 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. 2023 Feb 16. 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: 36795901 Free Books & Documents. Review.
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N; Care4Rare Canada Consortium; Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM. Johnstone DL, et al. Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346. Brain. 2019. PMID: 30668673 Free PMC article.
109 results