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

Year Number of Results
1993 1
1996 1
1998 3
2015 1
2018 1
2019 2
2020 1
2021 3
2022 1
2024 0

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PubMed for id: 4757852

10 results

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Page 1
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Hikmat O, Isohanni P, Keshavan N, Ferla MP, Fassone E, Abbott MA, Bellusci M, Darin N, Dimmock D, Ghezzi D, Houlden H, Invernizzi F, Kamarus Jaman NB, Kurian MA, Morava E, Naess K, Ortigoza-Escobar JD, Parikh S, Pennisi A, Barcia G, Tylleskär KB, Brackman D, Wortmann SB, Taylor JC, Bindoff LA, Fellman V, Rahman S. Hikmat O, et al. Ann Clin Transl Neurol. 2021 Nov;8(11):2155-2165. doi: 10.1002/acn3.51470. Epub 2021 Oct 18. Ann Clin Transl Neurol. 2021. PMID: 34662929 Free PMC article.
BCS1L mutations produce Fanconi syndrome with developmental disability.
Kanako KI, Sakakibara N, Murayama K, Nagatani K, Murata S, Otake A, Koga Y, Suzuki H, Uehara T, Kosaki K, Yoshiura KI, Mishima H, Ichimiya Y, Mushimoto Y, Horinouchi T, Nagano C, Yamamura T, Iijima K, Nozu K. Kanako KI, et al. J Hum Genet. 2022 Mar;67(3):143-148. doi: 10.1038/s10038-021-00984-0. Epub 2021 Oct 15. J Hum Genet. 2022. PMID: 34650211
Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview.
Rahman S, Thorburn D. Rahman S, et al. 2015 Oct 1 [updated 2020 Jul 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. 2015 Oct 1 [updated 2020 Jul 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: 26425749 Free Books & Documents. Review.