Recessive gene mutations underlie many developmental disorders and often lead to
disabling neurological problems. Here, we report identification of a homozygous c. 170G> A …

Abstract Communities of Question Answering (CQAs) are rapidly growing communities for
exchanging information in the form of questions and answers. They rely on the contributions …

Background Acne is an inflammatory condition principally affected by genetic and dietary
factors. Investigation into functional polymorphisms of TNF-α gene and their association with …

Mesoaxial synostotic syndactyly, Malik-Percin type (MSSD)(syndactyly type IX) is a rare
autosomal-recessive nonsyndromic digit anomaly with only two affected families reported so …

We report on nine members of a consanguineous Pakistani family with primary presentation
of intellectual disability, developmental delay, limb and gait ataxia, behavioral and speech …

There have been ever-increasing amounts of security vulnerabilities discovered and
reported in recent years. Much of the information related to these vulnerabilities is currently …

Objective: Congenital anomalies (CA) or birth defects cause substantial healthcare burden
in developing countries. There are few studies from Pakistan on the prevalence-pattern of …

Background Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic
variability and genetic heterogeneity. We aimed to discover the gene mutated in a …

Network Centrality is one of the core concepts in network analysis, which ranks the
importance of a node in a network. A considerably extensive range of centrality measures …

Spondylocarpotarsal synostosis (SCT) syndrome is a very rare and severe form of skeletal
dysplasia. The hallmark features of SCT are disproportionate short stature, scoliosis, fusion …