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

Year Number of Results
1993 3
2000 1
2004 1
2005 1
2007 1
2013 3
2015 2
2016 5
2017 6
2019 2
2020 7
2021 7
2022 5
2023 3
2024 2

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36 results

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Page 1
GLB1-Related Disorders.
Regier DS, Tifft CJ, Rothermel CE. Regier DS, et al. 2013 Oct 17 [updated 2021 Apr 22]. 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. 2013 Oct 17 [updated 2021 Apr 22]. 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: 24156116 Free Books & Documents. Review.
Phenylalanine Hydroxylase Deficiency.
Regier DS, Greene CL. Regier DS, et al. 2000 Jan 10 [updated 2017 Jan 5]. 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 Jan 10 [updated 2017 Jan 5]. 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: 20301677 Free Books & Documents. Review.
Mucopolysaccharidosis Type IVA.
Regier DS, Oetgen M, Tanpaiboon P. Regier DS, et al. 2013 Jul 11 [updated 2021 Jun 17]. 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. 2013 Jul 11 [updated 2021 Jun 17]. 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: 23844448 Free Books & Documents. Review.
A pandemic will not stop metabolic innovation.
MacLeod E, Starin D, Ah Mew N, Regier DS. MacLeod E, et al. Among authors: regier ds. Mol Genet Metab. 2020 Aug;130(4):225-226. doi: 10.1016/j.ymgme.2020.05.007. Epub 2020 May 22. Mol Genet Metab. 2020. PMID: 32461011 Free PMC article. No abstract available.
Diacylglycerol kinases.
Luo B, Regier DS, Prescott SM, Topham MK. Luo B, et al. Among authors: regier ds. Cell Signal. 2004 Sep;16(9):983-9. doi: 10.1016/j.cellsig.2004.03.016. Cell Signal. 2004. PMID: 15212759 Review.
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
Berger SI, Pitsava G, Cohen AJ, Délot EC, LoTempio J, Andrew EH, Martin GM, Marmolejos S, Albert J, Meltzer B, Fraser J, Regier DS, Kahn-Kirby AH, Smith E, Knoblach S, Ko A, Fusaro VA, Vilain E. Berger SI, et al. Among authors: regier ds. Clin Genet. 2023 Sep;104(3):377-383. doi: 10.1111/cge.14360. Epub 2023 May 17. Clin Genet. 2023. PMID: 37194472
Role of elosulfase alfa in mucopolysaccharidosis IVA.
Regier DS, Tanpaiboon P. Regier DS, et al. Appl Clin Genet. 2016 Jun 14;9:67-74. doi: 10.2147/TACG.S69080. eCollection 2016. Appl Clin Genet. 2016. PMID: 27366102 Free PMC article. Review.
36 results