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EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.
Shaw M, Winczewska-Wiktor A, Badura-Stronka M, Koirala S, Gardner A, Kuszel Ł, Kowal P, Steinborn B, Starczewska M, Garry S, Scheffer IE, Berkovic SF, Gecz J. Shaw M, et al. Among authors: garry s. Eur J Med Genet. 2020 Apr;63(4):103799. doi: 10.1016/j.ejmg.2019.103799. Epub 2019 Oct 23. Eur J Med Genet. 2020. PMID: 31655144
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
Jaffer F, Avbersek A, Vavassori R, Fons C, Campistol J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP, Sisodiya SM. Jaffer F, et al. Among authors: garry si. Brain. 2015 Oct;138(Pt 10):2859-74. doi: 10.1093/brain/awv243. Epub 2015 Aug 21. Brain. 2015. PMID: 26297560 Free PMC article.
Non-conventional laryngeal malignancies: a multicentre review of management and outcomes.
O'Neill RJ, Hintze J, Sharifah A, Garry S, Woods G, Noone A, Barrett HL, Young O, Mamdouh S, Shine N, Timon C, Kinsella J, Sheahan P, Lennon P, O'Neill JP. O'Neill RJ, et al. Among authors: garry s. Eur Arch Otorhinolaryngol. 2023 Jul;280(7):3383-3392. doi: 10.1007/s00405-023-07937-7. Epub 2023 Apr 1. Eur Arch Otorhinolaryngol. 2023. PMID: 37005958
44 results