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

Year Number of Results
1968 1
1978 1
1979 1
1987 2
1988 1
1992 2
1995 1
1996 1
1998 1
2000 2
2001 2
2002 4
2003 1
2005 5
2006 11
2007 4
2008 3
2009 3
2010 3
2011 7
2012 6
2013 4
2014 2
2015 1
2016 7
2017 5
2018 1
2019 6
2020 6
2021 1
2022 3
2023 1
2024 0

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Similar articles for PMID: 28255985

90 results

Results by year

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Page 1
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
Peña-Quintana L, Scherer G, Curbelo-Estévez ML, Jiménez-Acosta F, Hartmann B, La Roche F, Meavilla-Olivas S, Pérez-Cerdá C, García-Segarra N, Giguère Y, Huppke P, Mitchell GA, Mönch E, Trump D, Vianey-Saban C, Trimble ER, Vitoria-Miñana I, Reyes-Suárez D, Ramírez-Lorenzo T, Tugores A. Peña-Quintana L, et al. Clin Genet. 2017 Sep;92(3):306-317. doi: 10.1111/cge.13003. Epub 2017 May 18. Clin Genet. 2017. PMID: 28255985
Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.
Charfeddine C, Monastiri K, Mokni M, Laadjimi A, Kaabachi N, Perin O, Nilges M, Kassar S, Keirallah M, Guediche MN, Kamoun MR, Tebib N, Ben Dridi MF, Boubaker S, Ben Osman A, Abdelhak S. Charfeddine C, et al. Mol Genet Metab. 2006 Jun;88(2):184-91. doi: 10.1016/j.ymgme.2006.02.006. Epub 2006 Mar 30. Mol Genet Metab. 2006. PMID: 16574453
Richner-Hanhart syndrome detected by expanded newborn screening.
Meissner T, Betz RC, Pasternack SM, Eigelshoven S, Ruzicka T, Kruse R, Laitenberger G, Mayatepek E. Meissner T, et al. Pediatr Dermatol. 2008 May-Jun;25(3):378-80. doi: 10.1111/j.1525-1470.2008.00687.x. Pediatr Dermatol. 2008. PMID: 18577048
Richner-Hanhart syndrome (tyrosinemia type II).
Locatelli F, Puzenat E, Arnoux JB, Blanc D, Aubin F. Locatelli F, et al. Cutis. 2017 Dec;100(6):E20-E22. Cutis. 2017. PMID: 29360903 No abstract available.
[Tyrosinemia type II. Case report].
Benatiya AI, Bouayed MA, Touiza E, Daoudi K, Bhalil S, Elmesbahi I, Tahri H. Benatiya AI, et al. Bull Soc Belge Ophtalmol. 2005;(296):57-61. Bull Soc Belge Ophtalmol. 2005. PMID: 16050420 French.
90 results