Objective Exome sequences account for only 2% of the genome and may overlook mutations
causing disease. To obtain a more complete view, whole genome sequencing (WGS) was …

Sotos syndrome, characterized by intellectual disability and characteristic facial features, is
caused by haploinsufficiency in the NSD1 gene. We conducted an etiological study on two …

Status and recent developments of substructuring techniques and their application to
structural analysis and design are summarized. Discussion focuses on a number of aspects …

Background Neuroanatomical defects are often present in children with severe developmental
delay and intellectual disabilities. Few genetic loci have been associated with disorders …

Purpose To evaluate the role of neuro-imaging in children presenting with the first afebrile
seizure and determine factors that influence the outcome of imaging in a large paediatric …

Background WW domain containing oxidoreductase (WWOX) gene was cloned in 2000;
alteration has been seen in many cancer cells. It acts as a tumor suppresser by blocking cell …

Objective To evaluate the use of lingual mucosal graft (LMG) as a substitute for tunica
albuginea in the treatment of Peyronie disease (PD). Patients and Methods Seventeen patients, …

Objectives: Percutaneous nephrolithotomy (PCNL) is the standard management for large
and/or complex urolithiasis, but the standard patient position for PCNL is undecided. With the …

Intracranial calcification (ICC) and polymicrogyria (PMG) phenotypes occur in a large and
heterogeneous group of neurological disorders with diverse etiologies [Rajab et al., 2009; …

Background: Chronic obstructive pulmonary disease (COPD) is the third driving reason for
death around the world and a real number of patients suffers from disease exacerbation. …