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

Year Number of Results
1993 1
2002 1
2004 3
2005 3
2006 1
2007 1
2010 1
2013 1
2014 1
2016 1
2017 4
2020 1
2021 1
2022 1
2024 0

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18 results

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Page 1
Cystinosis.
Gahl WA, Thoene JG, Schneider JA. Gahl WA, et al. Among authors: thoene jg. N Engl J Med. 2002 Jul 11;347(2):111-21. doi: 10.1056/NEJMra020552. N Engl J Med. 2002. PMID: 12110740 Review. No abstract available.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: thoene jg. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
Programmed Cell Death in Cystinosis.
Ames EG, Thoene JG. Ames EG, et al. Among authors: thoene jg. Cells. 2022 Feb 15;11(4):670. doi: 10.3390/cells11040670. Cells. 2022. PMID: 35203319 Free PMC article. Review.
Dihydrolipoamide Dehydrogenase Deficiency.
Quinonez SC, Thoene JG. Quinonez SC, et al. Among authors: thoene jg. 2014 Jul 17 [updated 2021 Sep 30]. 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. 2014 Jul 17 [updated 2021 Sep 30]. 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: 25032271 Free Books & Documents. Review.
First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.
Kleta R, Kaskel F, Dohil R, Goodyer P, Guay-Woodford LM, Harms E, Ingelfinger JR, Koch VH, Langman CB, Leonard MB, Mannon RB, Sarwal M, Schneider JA, Skovby F, Sonies BC, Thoene JG, Trauner DA, Gahl WA; NIH Office of Rare Diseases. Kleta R, et al. Among authors: thoene jg. Pediatr Nephrol. 2005 Apr;20(4):452-4. doi: 10.1007/s00467-004-1777-5. Epub 2005 Jan 27. Pediatr Nephrol. 2005. PMID: 15747161 Review. No abstract available.
18 results