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Year Number of Results
1993 2
2003 1
2004 1
2011 1
2012 1
2013 4
2014 3
2016 2
2017 4
2018 3
2019 7
2020 7
2021 9
2022 3
2023 4
2024 4

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39 results

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Page 1
Belzutifan for Renal Cell Carcinoma in von Hippel-Lindau Disease.
Jonasch E, Donskov F, Iliopoulos O, Rathmell WK, Narayan VK, Maughan BL, Oudard S, Else T, Maranchie JK, Welsh SJ, Thamake S, Park EK, Perini RF, Linehan WM, Srinivasan R; MK-6482-004 Investigators. Jonasch E, et al. N Engl J Med. 2021 Nov 25;385(22):2036-2046. doi: 10.1056/NEJMoa2103425. N Engl J Med. 2021. PMID: 34818478 Free PMC article. Clinical Trial.
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K. Weiss K, et al. Among authors: quinonez sc. Genet Med. 2020 Feb;22(2):389-397. doi: 10.1038/s41436-019-0612-0. Epub 2019 Aug 7. Genet Med. 2020. PMID: 31388190 Free PMC article.
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, Marzulla TB, O'Connor BC, Quinonez SC, Seemann L, Turner L, Bielas S, Harris NL, Ogle JD, Innis JW, Martin DM. Ziats MN, et al. Among authors: quinonez sc. Pediatr Res. 2020 Mar;87(4):735-739. doi: 10.1038/s41390-019-0611-5. Epub 2019 Oct 16. Pediatr Res. 2020. PMID: 31618753 Free PMC article.
Dihydrolipoamide Dehydrogenase Deficiency.
Quinonez SC, Thoene JG. Quinonez SC, et al. 2014 Jul 17 [updated 2021 Sep 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2014 Jul 17 [updated 2021 Sep 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 25032271 Free Books & Documents. Review.
Citrullinemia Type I.
Quinonez SC, Lee KN. Quinonez SC, et al. 2004 Jul 7 [updated 2022 Aug 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2004 Jul 7 [updated 2022 Aug 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301631 Free Books & Documents. Review.
Human HOX gene disorders.
Quinonez SC, Innis JW. Quinonez SC, et al. Mol Genet Metab. 2014 Jan;111(1):4-15. doi: 10.1016/j.ymgme.2013.10.012. Epub 2013 Oct 29. Mol Genet Metab. 2014. PMID: 24239177 Free article. Review.
Urea cycle disorders in critically Ill adults.
Long MT, Kruser JM, Quinonez SC. Long MT, et al. Among authors: quinonez sc. Curr Opin Clin Nutr Metab Care. 2024 Mar 1;27(2):184-191. doi: 10.1097/MCO.0000000000000992. Epub 2023 Nov 6. Curr Opin Clin Nutr Metab Care. 2024. PMID: 37938118 Review.
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
Steele JL, Morrow MM, Sarnat HB, Alkhunaizi E, Brandt T, Chitayat DA, DeFilippo CP, Douglas GV, Dubbs HA, Elloumi HZ, Glassford MR, Hannibal MC, Héron B, Kim LE, Marco EJ, Mignot C, Monaghan KG, Myers KA, Parikh S, Quinonez SC, Rajabi F, Shankar SP, Shinawi MS, van de Kamp JJP, Veerapandiyan A, Waldman AT, Graf WD. Steele JL, et al. Among authors: quinonez sc. Pediatr Neurol. 2022 Jan;126:65-73. doi: 10.1016/j.pediatrneurol.2021.10.008. Epub 2021 Oct 18. Pediatr Neurol. 2022. PMID: 34740135 Free article.
39 results