Items where authors include "Maroofian, R."

Article

Aughey, G.N., Cali, E., Maroofian, R. orcid.org/0000-0001-6763-1542 et al. (53 more authors) (2024) Clinical and genetic characterization of a progressive RBL2 associated neurodevelopmental disorder. Brain. ISSN 0006-8950

Maroofian, R. orcid.org/0000-0001-6763-1542, Sarraf, P., O’Brien, T.J. et al. (29 more authors) (2024) RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain, 147 (7). pp. 2334-2343. ISSN 0006-8950

Saffari, A., Lau, T. orcid.org/0000-0003-0514-1729, Tajsharghi, H. et al. (98 more authors) (2023) The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain, 146 (8). pp. 3273-3288. ISSN 0006-8950

Pagnamenta, A.T. orcid.org/0000-0001-7334-0602, Belles, R.S., Salbert, B.A. et al. (21 more authors) (2023) The prevalence and phenotypic range associated with biallelic PKDCC variants. Clinical Genetics, 104 (1). pp. 121-126. ISSN 0009-9163