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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 2
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101 results
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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
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, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 20301631 Free Books & Documents. Review.
Dihydrolipoamide Dehydrogenase Deficiency.
Quinonez SC, Thoene JG. Quinonez SC, et al. Among authors: thoene jg. 2014 Jul 17 [updated 2020 Jul 9]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 25032271 Free Books & Documents. Review.
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.
Introduction to "Extra-Renal Complications of Cystinosis".
Thoene JG. Thoene JG. J Pediatr. 2017 Apr;183S:S1. doi: 10.1016/j.jpeds.2016.12.051. J Pediatr. 2017. PMID: 28343469 No abstract available.
Myopathy and Less Frequent Complications of Cystinosis.
Thoene JG. Thoene JG. J Pediatr. 2017 Apr;183S:S22-S23. doi: 10.1016/j.jpeds.2016.12.056. J Pediatr. 2017. PMID: 28343473 No abstract available.
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
Conclusions to the Supplement, "Extra-Renal Complications of Cystinosis".
Thoene JG. Thoene JG. J Pediatr. 2017 Apr;183S:S24-S25. doi: 10.1016/j.jpeds.2016.12.057. J Pediatr. 2017. PMID: 28343474 No abstract available.
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.
101 results
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