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

Year Number of Results
1993 1
2002 5
2003 2
2005 3
2006 5
2007 1
2008 2
2009 5
2010 7
2011 11
2012 11
2013 9
2014 10
2015 10
2016 8
2017 11
2018 7
2019 10
2020 11
2021 10
2022 14
2023 7
2024 8
2025 9
2026 0

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144 results

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Page 1
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: anikster y. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
Costeff Syndrome.
Anikster Y. Anikster Y. 2006 Jul 28 [updated 2020 Apr 30]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2006 Jul 28 [updated 2020 Apr 30]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301646 Free Books & Documents. Review.
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Erdinc D, Rodríguez-Luis A, Fassad MR, Mackenzie S, Watson CM, Valenzuela S, Xie X, Menger KE, Sergeant K, Craig K, Hopton S, Falkous G; Genomics England Research Consortium; Poulton J, Garcia-Moreno H, Giunti P, de Moura Aschoff CA, Morales Saute JA, Kirby AJ, Toro C, Wolfe L, Novacic D, Greenbaum L, Eliyahu A, Barel O, Anikster Y, McFarland R, Gorman GS, Schaefer AM, Gustafsson CM, Taylor RW, Falkenberg M, Nicholls TJ. Erdinc D, et al. Among authors: anikster y. EMBO Mol Med. 2023 May 8;15(5):e16775. doi: 10.15252/emmm.202216775. Epub 2023 Apr 4. EMBO Mol Med. 2023. PMID: 37013609 Free PMC article.
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
Bolkier Y, Barel O, Marek-Yagel D, Atias-Varon D, Kagan M, Vardi A, Mishali D, Katz U, Salem Y, Tirosh-Wagner T, Jacobson JM, Raas-Rothschild A, Chorin O, Eliyahu A, Sarouf Y, Shlomovitz O, Veber A, Shalva N, Javasky E, Ben Moshe Y, Staretz-Chacham O, Rechavi G, Mane S, Anikster Y, Vivante A, Pode-Shakked B. Bolkier Y, et al. Among authors: anikster y. J Med Genet. 2022 Jul;59(7):691-696. doi: 10.1136/jmedgenet-2021-107775. Epub 2021 Jul 2. J Med Genet. 2022. PMID: 34215651
Neuro-Ophthalmic Phenotype of OPA3.
Huna-Baron R, Yahalom G, Anikster Y, Ben Zeev B, Hoffmann C, Hassin-Baer S. Huna-Baron R, et al. Among authors: anikster y. J Neuroophthalmol. 2022 Mar 1;42(1):e147-e152. doi: 10.1097/WNO.0000000000001249. Epub 2021 Apr 14. J Neuroophthalmol. 2022. PMID: 33870938
Optic atrophies in metabolic disorders.
Huizing M, Brooks BP, Anikster Y. Huizing M, et al. Among authors: anikster y. Mol Genet Metab. 2005 Sep-Oct;86(1-2):51-60. doi: 10.1016/j.ymgme.2005.07.034. Epub 2005 Sep 27. Mol Genet Metab. 2005. PMID: 16194617 Free PMC article. Review.
Phenotype variability in Hajdu-Cheney syndrome.
Regev M, Pode-Shakked B, Jacobson JM, Raas-Rothschild A, Goldstein DB, Anikster Y. Regev M, et al. Among authors: anikster y. Eur J Med Genet. 2019 Jan;62(1):35-38. doi: 10.1016/j.ejmg.2018.04.015. Epub 2018 Apr 23. Eur J Med Genet. 2019. PMID: 29698804
Dietary-Induced Ketogenesis: Adults Are Not Children.
Porper K, Zach L, Shpatz Y, Ben-Zeev B, Tzadok M, Jan E, Talianski A, Champ CE, Symon Z, Anikster Y, Lawrence YR. Porper K, et al. Among authors: anikster y. Nutrients. 2021 Sep 2;13(9):3093. doi: 10.3390/nu13093093. Nutrients. 2021. PMID: 34578970 Free PMC article.
Natural history of alkaptonuria.
Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA. Phornphutkul C, et al. Among authors: anikster y. N Engl J Med. 2002 Dec 26;347(26):2111-21. doi: 10.1056/NEJMoa021736. N Engl J Med. 2002. PMID: 12501223 Free article.
144 results