The XPG/ERCC5 endonuclease was originally identified as the causative gene for
Xeroderma Pigmentosum complementation group G. Ever since its discovery, in depth …

Inositol 1, 4, 5-trisphosphate receptors (IP3Rs) are ubiquitous intracellular Ca2+ release
channels. Their activation, subcellular localization, abundance, and regulation play major …

Abstract Coffin–Siris syndrome (CSS, MIM# 135900) is a congenital disorder characterized
by coarse facial features, intellectual disability, and hypoplasia of the fifth digit and nails …

Methylmalonic acidemia (MMA) is the most common organic acidemia in China. This study
aimed to characterise the genotypic and phenotypic variabilities, and the molecular …

We implemented a collaborative diagnostic program in Lahore (Pakistan) aiming to
establish the genetic diagnosis, and to asses diagnostic yield and clinical impact in patients …

Abstract Background Aicardi-Goutières syndrome is a rare genetic neurological disorder
with variable clinical manifestations. Molecular detection of specific mutations is required to …

Background Clinical exome sequencing (CES) is rapidly becoming the diagnostic test of
choice in patients with suspected Mendelian diseases especially those that are …

Abstract Background According to the Catalogue of Transmission Genetics in Arabs, less
than half of diseases reported in Lebanese patients are mapped. In the recent years, Next …

ABSTRACT Introduction: Coenzyme Q10 (CoQ) deficiency syndromes comprise a growing
number of genetic disorders. While primary CoQ deficiency syndromes are rare diseases …

There are many different genetic diseases called inborn errors of metabolism (IEM) which
result from defective enzymes in the metabolic pathway. As a result, these defects either …