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Results by year

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

Year Number of Results
1993 80
1998 1
1999 4
2000 7
2001 1
2002 5
2003 4
2004 3
2005 7
2006 6
2007 2
2008 3
2009 3
2010 1
2011 3
2012 5
2013 3
2014 3
2015 5
2016 3
2017 9
2018 7
2019 8
2020 9
2021 14
2022 20
2023 21
2024 11

Text availability

Article attribute

Article type

Publication date

Similar articles for PMID: 20301691

101 results

Results by year

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Page 1
Classic Galactosemia and Clinical Variant Galactosemia.
Berry GT. Berry GT. 2000 Feb 4 [updated 2021 Mar 11]. 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. 2000 Feb 4 [updated 2021 Mar 11]. 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: 20301691 Free Books & Documents. Review.
Classic Isovaleric Acidemia.
Mütze U, Reischl-Hajiabadi A, Kölker S. Mütze U, et al. 2024 Mar 14. 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. 2024 Mar 14. 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: 38484105 Free Books & Documents. Review.
Mucopolysaccharidosis Type VII.
Sun A, Wang R. Sun A, et al. 2024 Jan 4. 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. 2024 Jan 4. 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: 38190471 Free Books & Documents. Review.
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
Forte G, Buonadonna AL, Pantaleo A, Fasano C, Capodiferro D, Grossi V, Sanese P, Cariola F, De Marco K, Lepore Signorile M, Manghisi A, Guglielmi AF, Simonetti S, Laforgia N, Disciglio V, Simone C. Forte G, et al. Int J Mol Sci. 2023 Dec 12;24(24):17388. doi: 10.3390/ijms242417388. Int J Mol Sci. 2023. PMID: 38139222 Free PMC article. Review.
WARS2 Deficiency.
Mroczek M, Busra A, Houlden H, Efthymiou S, Nagy S. Mroczek M, et al. 2023 Oct 12. 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. 2023 Oct 12. 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: 37824696 Free Books & Documents. Review.
Aromatic L-Amino Acid Decarboxylase Deficiency.
Blau N, Pearson TS, Kurian MA, Elsea SH. Blau N, et al. 2023 Oct 12. 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. 2023 Oct 12. 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: 37824694 Free Books & Documents. Review.
PLPBP Deficiency.
Al-Shekaili H, Ciapaite J, van Karnebeek C, Pena I. Al-Shekaili H, et al. 2023 Feb 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. 2023 Feb 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: 36795901 Free Books & Documents. Review.
101 results