Joubert syndrome is a congenital brain malformation of the cerebellar vermis and brainstem
with abnormalities of axonal decussation (crossing in the brain) affecting the corticospinal …

We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from
54 countries with a wide phenotypic spectrum. Clinical information given by the requesting …

Objectives: To determine preferences of patients regarding their involvement in the clinical
decision making process and the related factors in Saudi Arabia. Methods: This cross-…

Importance Coronavirus disease 2019 (COVID-19) is a severe acute respiratory syndrome
that is caused by a novel coronavirus 2 (SARS-CoV-2). It originated in China late December …

Background Biotin–thiamine‐responsive basal ganglia disease (BTBGD) is an autosomal
recessive neurometabolic disorder mostly presented in children. The disorder is described as …

… available from the corresponding author, Ahmed Al Rumayyan, upon reasonable request. …
13 Khedr EM, Shawky OA, Ahmed MA, Elfetoh NA, Al Attar G, Ali AM, et al. A communitybased …

Background: Leukodystrophies (LDs) are inherited heterogeneous conditions that affect the
central nervous system with or without peripheral nerve involvement. They are individually …

Von Willebrand A domain-containing protein 8 (VWA8), also named KIAA0564, is a poorly
characterized, mitochondrial matrix-targeted protein having a putative ATPase activity. VWA8 …

Purpose The aim of this manuscript was to assess the epidemiology and clinical features of
Neurofibromatosis type 1 (NF-1) based on the newly published revised NF-1 diagnostic …

Objective This study aimed to determine the clinical characteristics and factors associated
with neonatal hypoxic-ischaemic encephalopathy (HIE) and its neurodevelopmental outcomes…