We identified homozygous truncating mutations in HOXA1 in three genetically isolated human
populations. The resulting phenotype includes horizontal gaze abnormalities, deafness, …

We describe nine previously unreported individuals from six families who have homozygous
mutations of HOXA1 and either the Bosley–Salih–Alorainy syndrome (BSAS) or the …

Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging
neuronal commissures whose development is tightly regulated. Here we report a …

Methods We surveyed the MR facilities in the Kingdom of Saudi Arabia using a questionnaire
that addresses issues concerning policies and procedures as well as the practice of …

Background Asparagine synthetase deficiency (OMIM# 615574) is a very rare newly described
neurometabolic disorder characterized by congenital microcephaly and severe global …

Objectives: To describe the epidemiology and clinical features of stroke in a prospective
and retrospective cohort of Saudi children and ascertain the causes, pathogenesis, and risk …

Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive
disease with cardinal features including osteopetrosis, renal tubular acidosis and brain …

PURPOSE: Joubert syndrome (Online Mendelian Inheritance in Man 213300) is a rare
autosomal recessive congenital malformation of the brainstem and cerebellar vermis. Diagnosis …

Assessment of health workers as students and professionals has a profound impact on their
learning and is an essential safety valve before certification. It is used for their training, their …

Joubert syndrome is often missed clinically and radiologically if not enough attention is paid
to its subtle and variable clinical presentation and the imaging findings in the posterior fossa…