Publications

Export 4 results:
Author Title [ Year(Desc)]
Filters: Author is England, Eleina  [Clear All Filters]
2019
Patak, J. et al. MAGEL2-related disorders: A study and case series. Clin Genet 96, 493-505 (2019).
2020
Mroczek, M. et al. Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients. Neuromuscul Disord 30, 310-314 (2020).
2021
D'Gama, A. M. et al. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Am J Med Genet A 185, 203-207 (2021).
Muir, A. M. et al. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med 23, 881-887 (2021).