Majeed Al-Mateen

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Case report · Journal of Medical Genetics · 2010 · 114 citations

The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: a transient disorder of children and young adults

Case report · Journal of Child Neurology · 2014 · First of 3 authors · 43 citations