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

Year Number of Results
1993 3
2007 1
2009 1
2010 3
2011 1
2014 1
2015 5
2016 4
2017 4
2018 6
2019 7
2020 10
2021 14
2022 12
2023 14
2024 4

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77 results

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Page 1
Primary Pyruvate Dehydrogenase Complex Deficiency Overview.
Ganetzky R, McCormick EM, Falk MJ. Ganetzky R, et al. 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. 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: 34138529 Free Books & Documents. Review.
Mitochondrial Hepatopathies.
Alharbi H, Priestley JRC, Wilkins BJ, Ganetzky RD. Alharbi H, et al. Among authors: ganetzky rd. Clin Liver Dis (Hoboken). 2021 Jul 22;18(5):243-250. doi: 10.1002/cld.1133. eCollection 2021 Nov. Clin Liver Dis (Hoboken). 2021. PMID: 34840726 Free PMC article. Review. No abstract available.
TRMU Deficiency.
Reinhart M, Muraresku C, Ganetzky R. Reinhart M, et al. Among authors: ganetzky r. 2023 May 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. 2023 May 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: 37184193 Free Books & Documents. Review.
Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation.
Ganetzky RD, Markhard AL, Yee I, Clever S, Cahill A, Shah H, Grabarek Z, To TL, Mootha VK. Ganetzky RD, et al. N Engl J Med. 2022 Oct 13;387(15):1395-1403. doi: 10.1056/NEJMoa2202949. N Engl J Med. 2022. PMID: 36239646 Free PMC article.
Perspectives of Rare Disease Experts on Newborn Genome Sequencing.
Gold NB, Adelson SM, Shah N, Williams S, Bick SL, Zoltick ES, Gold JI, Strong A, Ganetzky R, Roberts AE, Walker M, Holtz AM, Sankaran VG, Delmonte O, Tan W, Holm IA, Thiagarajah JR, Kamihara J, Comander J, Place E, Wiggs J, Green RC. Gold NB, et al. Among authors: ganetzky r. JAMA Netw Open. 2023 May 1;6(5):e2312231. doi: 10.1001/jamanetworkopen.2023.12231. JAMA Netw Open. 2023. PMID: 37155167 Free PMC article.
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency.
Ganetzky R, Stojinski C. Ganetzky R, et al. 2019 Jun 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. 2019 Jun 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: 31219693 Free Books & Documents. Review.
77 results