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NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Al Shehhi M, Forman EB, Fitzgerald JE, McInerney V, Krawczyk J, Shen S, Betts DR, Ardle LM, Gorman KM, King MD, Green A, Gallagher L, Lynch SA. Al Shehhi M, et al. Among authors: king md. Eur J Med Genet. 2019 Mar;62(3):204-209. doi: 10.1016/j.ejmg.2018.07.015. Epub 2018 Jul 18. Eur J Med Genet. 2019. PMID: 30031152
Catalogue of inherited disorders found among the Irish Traveller population.
Lynch SA, Crushell E, Lambert DM, Byrne N, Gorman K, King MD, Green A, O'Sullivan S, Browne F, Hughes J, Knerr I, Monavari AA, Cotter M, McConnell VPM, Kerr B, Jones SA, Keenan C, Murphy N, Cody D, Ennis S, Turner J, Irvine AD, Casey J. Lynch SA, et al. Among authors: king md. J Med Genet. 2018 Apr;55(4):233-239. doi: 10.1136/jmedgenet-2017-104974. Epub 2018 Jan 22. J Med Genet. 2018. PMID: 29358271
The phenotypic spectrum of SCN2A-related epilepsy.
Reynolds C, King MD, Gorman KM. Reynolds C, et al. Among authors: king md. Eur J Paediatr Neurol. 2020 Jan;24:117-122. doi: 10.1016/j.ejpn.2019.12.016. Epub 2019 Dec 12. Eur J Paediatr Neurol. 2020. PMID: 31924505 Review.
Expansion of the phenotype of biallelic variants in TRIT1.
Forde KM, Molloy B, Conroy J, Green AJ, King MD, Buckley PG, Ryan S, Gorman KM. Forde KM, et al. Among authors: king md. Eur J Med Genet. 2020 Jun;63(6):103882. doi: 10.1016/j.ejmg.2020.103882. Epub 2020 Feb 20. Eur J Med Genet. 2020. PMID: 32088416 No abstract available.
Footloose: Spinal Myoclonus after Myelomeningocele Repair.
Gorman KM, King MD. Gorman KM, et al. Among authors: king md. J Pediatr. 2016 Jun;173:261-261.e1. doi: 10.1016/j.jpeds.2016.02.032. Epub 2016 Mar 9. J Pediatr. 2016. PMID: 26968832 No abstract available.
331 results