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

Year Number of Results
1994 1
1997 1
1999 1
2001 4
2002 1
2003 1
2007 3
2008 2
2010 1
2011 3
2012 3
2013 1
2014 1
2015 3
2016 1
2017 2
2018 1
2019 3
2020 3
2021 3
2023 2
2024 1

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39 results

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Page 1
The Role of the European Society of Human Genetics in Delivering Genomic Education.
Tobias ES, Avram E, Calapod P, Cordier C, den Dunnen JT, Ding C, Dolzan V, Houge SD, Lynch SA, O'Byrne J, Patsalis P, Prokopenko I, Soares CA, Tobias AP, Newman WG. Tobias ES, et al. Front Genet. 2021 Sep 3;12:693952. doi: 10.3389/fgene.2021.693952. eCollection 2021. Front Genet. 2021. PMID: 34539735 Free PMC article.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA, Hall HN, Owen LJ, Livesey BJ, Hanson IM, Adams GGW, Bodek S, Calvas P, Castle B, Clarke M, Deng AT, Edery P, Fisher R, Gillessen-Kaesbach G, Heon E, Hurst J, Josifova D, Lorenz B, McKee S, Meire F, Moore AT, Parker M, Reiff CM, Self J, Tobias ES, Verheij JBGM, Willems M, Williams D, van Heyningen V, Marsh JA, FitzPatrick DR. Williamson KA, et al. Among authors: tobias es. Genet Med. 2020 Mar;22(3):598-609. doi: 10.1038/s41436-019-0685-9. Epub 2019 Nov 8. Genet Med. 2020. PMID: 31700164 Free PMC article.
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).
Nisselle A, Janinski M, Martyn M, McClaren B, Kaunein N; Reporting Item Standards for Education and its Evaluation in Genomics Expert Group; Barlow-Stewart K, Belcher A, Bernat JA, Best S, Bishop M, Carroll JC, Cornel M, Dissanayake VHW, Dodds A, Dunlop K, Garg G, Gear R, Graves D, Knight K, Korf B, Kumar D, Laurino M, Ma A, Maguire J, Mallett A, McCarthy M, McEwen A, Mulder N, Patel C, Quinlan C, Reed K, Riggs ER, Sinnerbrink I, Slavotinek A, Suppiah V, Terrill B, Tobias ES, Tonkin E, Trumble S, Wessels TM, Metcalfe S, Jordan H, Gaff C. Nisselle A, et al. Among authors: tobias es. Genet Med. 2021 Jul;23(7):1356-1365. doi: 10.1038/s41436-021-01140-x. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824503 Free article.
Cataplexy in the Prader-Willi syndrome.
Tobias ES, Tolmie JL, Stephenson JB. Tobias ES, et al. Arch Dis Child. 2002 Aug;87(2):170. doi: 10.1136/adc.87.2.170-a. Arch Dis Child. 2002. PMID: 12138077 Free PMC article. No abstract available.
Towards earlier diagnosis of 22q11 deletions.
Tobias ES, Morrison N, Whiteford ML, Tolmie JL. Tobias ES, et al. Arch Dis Child. 1999 Dec;81(6):513-4. doi: 10.1136/adc.81.6.513. Arch Dis Child. 1999. PMID: 10569971 Free PMC article.
39 results