Purpose Establishing links between Mendelian phenotypes and genes enables the proper
interpretation of variants therein. Autozygome, a rich source of homozygous variants, has …

We define the neurological characteristics of familial cases from multiple branches of a large
consanguineous family with cerebellar ataxia, mental retardation (MR), and dysequilibrium …

Objectives To investigate the clinical features of developmental and/or epileptic encephalopathy
with spike-and-wave activation in sleep (D/EE-SWAS), its electrographic characteristics, …

Aromatic L-amino acid decarboxylase (AADC) deficiency is an ultra-rare and often severe
neurometabolic disorder resulting from variants in the dopa decarboxylase (DDC) gene. A …

OBJECTIVE: To assess the mutational and clinical spectrum of spatacsin associated with
autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC). …

Sep 2007 Active participation in the success of the annual seminar of the Special Education
entitled (the reality of intellectual education and ambition) at the Institute of Intellectual …

… John’s University, USA Muhammad Sharif, COMSAT University, Pakistan Seif Qadri,
Norof University, Norway Tanzila Saba, Prince Sultan University, Saudi Arabia Kishor Morol …

… Abu-Rezq, 1 Suad Al-Hooti 2 & Dangly A. Jacob 3 … Faiza Al-Yamani to be identified by her
group. They compared Kuwait's D. salina with the … Faiza Al-Yamani, personal communication). …

… Amal Al-Yamani. • Attend a workshop entitled hyperactivity and lack of concentration, the
challenges of diagnosis and comprehensive treatment, Dr. Suad Al-Yamani and Dr. Amal …

Objectives Inappropriate and overuse of antimicrobials, incorrect dosing, and extended duration
are some of the leading causes of antibiotic-resistance that have led to the development …