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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 81
1998 2
1999 3
2000 4
2001 4
2002 3
2003 5
2004 3
2005 3
2006 2
2007 1
2008 4
2009 3
2010 2
2012 2
2013 2
2014 2
2015 2
2016 2
2017 8
2018 9
2019 4
2020 17
2021 18
2022 18
2023 26
2024 6

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Publication date

Similar articles for PMID: 29419975

101 results

Results by year

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Page 1
NGLY1-Related Congenital Disorder of Deglycosylation.
Lam C, Wolfe L, Need A, Shashi V, Enns G. Lam C, et al. 2018 Feb 8. 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. 2018 Feb 8. 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: 29419975 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.
SLC6A3-Related Dopamine Transporter Deficiency Syndrome.
Spaull RVV, Kurian MA. Spaull RVV, et al. 2017 Jul 27 [updated 2023 Sep 28]. 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. 2017 Jul 27 [updated 2023 Sep 28]. 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: 28749637 Free Books & Documents. Review.
Biotinidase Deficiency.
Wolf B. Wolf B. 2000 Mar 24 [updated 2023 May 25]. 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 Mar 24 [updated 2023 May 25]. 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: 20301497 Free Books & Documents. Review.
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
Dabaj I, Sudrié-Arnaud B, Lecoquierre F, Raymond K, Ducatez F, Guerrot AM, Snanoudj S, Coutant S, Saugier-Veber P, Marret S, Nicolas G, Tebani A, Bekri S. Dabaj I, et al. Life (Basel). 2021 Feb 27;11(3):187. doi: 10.3390/life11030187. Life (Basel). 2021. PMID: 33673403 Free PMC article.
Creatine Deficiency Disorders.
Mercimek-Andrews S, Salomons GS. Mercimek-Andrews S, et al. 2009 Jan 15 [updated 2022 Feb 10]. 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. 2009 Jan 15 [updated 2022 Feb 10]. 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: 20301745 Free Books & Documents. Review.
PMM2-CDG.
Lam C, Krasnewich DM. Lam C, et al. 2005 Aug 15 [updated 2021 May 20]. 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. 2005 Aug 15 [updated 2021 May 20]. 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: 20301289 Free Books & Documents. Review.
101 results