Publications

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Author Title [ Year(Desc)]
Filters: Author is Pehlivan, Davut and Keyword is Infant, Newborn  [Clear All Filters]
2015
Pehlivan, D. et al. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet 134, 671-3 (2015).
2020
Van Bergen, N. J. et al. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain 143, 112-130 (2020).