Associated Papers
Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation.
Dols-Icardo O et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.
D'Alessandro LC et al.
American Journal of Medical Genetics. Part A, 2013
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