Introduction: Rare diseases (RDs) create a massive burden for governments and families
because sufferers of these diseases are required to undergo long-term treatment or …

Introduction: Physicians face diagnostic dilemmas upon reports indicating disease variants
of unknown significance (VUS). The most puzzling cases are patients with rare diseases …

Purpose The genetic underpinning of neurodevelopmental disorders (NDDs) in diverse
ethnic populations, especially those with high rates of consanguinity, remains largely …

Neurodevelopmental disorders are a group of complex multifactorial disorders characterized
by cognitive impairment, communication deficits, abnormal behaviour, and/or motor skills …

Background: There is a great obstacle in prenatal diagnosis of fetal anomalies due to their
considerable genetic and clinical heterogeneity. Whole-exome sequencing (WES) has been …

Global developmental delay (GDD) and intellectual disability (ID) are relatively common
neurodevelopmental disorders that significantly impact affected children, their families, and …

Chromosomal structural variations (SVs) are linked to a wide range of phenotypes and arise
due to disruptions during DNA replication, which can affect gene function within the SV …

Sažetak Ciljevi: Cilj ovog istraživanja bio je istražiti udio značajnih perinatalnih događaja,
pojedinih kliničkih slika, komorbiditeta i terapijskih opcija u djece s poremećajima iz spektra …

[ES] Introducción. La secuenciación masiva de nueva generación, o NGS, es un conjunto de
técnicas moleculares que permiten identificar rápidamente el orden de los nucleótidos …

As perturbações do neurodesenvolvimento (PNDs), têm apresentado um diagnóstico cada
vez mais preciso e detalhado através da utilização do estudo do exoma [1], uma das …