Publications

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Author Title [ Year(Desc)]
Filters: Author is Marafi, Dana and First Letter Of Title is B  [Clear All Filters]
2019
Punetha, J. et al. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Ann Clin Transl Neurol 6, 1395-1406 (2019).
2020
Marafi, D. et al. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol 7, 610-627 (2020).
Saad, A. K. et al. Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy. Brain 143, e83 (2020).