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

Year Number of Results
1967 1
1976 2
1977 3
1978 2
1979 2
1980 2
1981 3
1982 3
1983 5
1984 3
1985 10
1986 5
1987 5
1988 3
1989 3
1990 4
1991 4
1992 4
1993 2
1994 1
1995 3
1996 1
1998 2
1999 2
2000 1
2001 1
2002 3
2003 1
2004 4
2005 5
2006 2
2007 1
2009 2
2010 2
2013 2
2014 1
2016 2
2017 4
2020 1
2021 1
2022 1
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Search Results

102 results
Results by year
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Page 1
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
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.
Cystinosis.
Thoene JG. Thoene JG. J Inherit Metab Dis. 1995;18(4):380-6. doi: 10.1007/BF00710050. J Inherit Metab Dis. 1995. PMID: 7494397 Free 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, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2014 Jul 17 [updated 2021 Sep 30]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 25032271 Free Books & Documents. Review.
Citrullinemia.
Leibowitz J, Thoene J, Spector E, Nyhan W. Leibowitz J, et al. Among authors: thoene j. Virchows Arch A Pathol Anat Histol. 1978 Mar 10;377(3):249-58. doi: 10.1007/BF00426934. Virchows Arch A Pathol Anat Histol. 1978. PMID: 148153
Citrullinemia Type I.
Quinonez SC, Thoene JG. Quinonez SC, et al. Among authors: thoene jg. 2004 Jul 7 [updated 2016 Sep 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2004 Jul 7 [updated 2016 Sep 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301631 Free Books & Documents. Review.
Treatment of urea cycle disorders.
Thoene JG. Thoene JG. J Pediatr. 1999 Mar;134(3):255-6. doi: 10.1016/s0022-3476(99)70443-9. J Pediatr. 1999. PMID: 10064655 Review. No abstract available.
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.
The transport systems of mammalian lysosomes.
Pisoni RL, Thoene JG. Pisoni RL, et al. Among authors: thoene jg. Biochim Biophys Acta. 1991 Dec 12;1071(4):351-73. doi: 10.1016/0304-4157(91)90002-e. Biochim Biophys Acta. 1991. PMID: 1751541 Free article. Review. No abstract available.
102 results