Objective With 20-30% of all marriages occurring between first cousins, increasing attention
in Jordan is now given to role of consanguinity in the occurrence of genetic diseases. The …

Oculogastrointestinal neurodevelopmental syndrome has been described in seven previously
published individuals who harbor biallelic pathogenic variants in the CAPN15 gene. …

Little research is available on autism spectrum dis-orders (ASDs) epidemiology and clinical
practice in developing countries. Studies from the Middle East are particularly rare (1Á6). In …

Purpose To elucidate the novel molecular cause in families with a new autosomal recessive
neurodevelopmental disorder. Methods A combination of exome sequencing and gene …

Aims To report the diagnostic yield of clinical singleton whole exome sequencing (WES)
performed among a group of Jordanian children presenting with global developmental delay /…

Objectives: To explore access to intervention services for children with autism spectrum
disorder (ASD) in Jordan. Methods: We used prospective cross sectional design and survey …

… Author links open overlay panel Amira T. Masri a , Liyana Oweis b , Abdelkarim Al Qudah
a , … The first identified variant c 0.437 C>T; p.S146F in this patient has been described as …

Objective We investigated parental use of conventional therapies and complementary and
alternative medicine (CAM) for children with autism in Jordan. Method This prospective cross-…

Ceftriaxone is known to cause biliary pseudolithiasis and, rarely, nephrolithiasis. When used
in neonates receiving intravenous calcium, fatal lung and kidney calcifications occur. There …

Objective: To study types and etiologies of epilepsy in Jordanian pediatric epileptic patients
maintained on antiepileptic drugs using customized classification scheme of International …