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1994 1
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2001 4
2002 1
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2008 2
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2011 3
2012 3
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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.
SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis.
Tobias ES, Lucas-Herald AK, Sagar D, Montezano AC, Rios FJ, De Lucca Camargo L, Hamilton G, Gazdagh G, Diver LA, Williams N, Herzyk P, Touyz RM, Greenfield A, McGowan R, Ahmed SF. Tobias ES, et al. Endocrine. 2024 Feb 24. doi: 10.1007/s12020-024-03701-x. Online ahead of print. Endocrine. 2024. PMID: 38400880
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.
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.
40 results