Mitochondrial disease presenting in childhood is characterized by clinical, biochemical and
genetic complexity. Some children are affected by canonical syndromes, but the majority …

The rapid development of such research field as multi-omics and artificial intelligence (AI)
has made it possible to acquire and analyze the multi-dimensional big data of human …

Over the past decade high‐throughput DNA sequencing approaches, namely whole exome
and whole genome sequencing became a standard procedure in Mendelian disease …

Introduction A paucity of literature exists on genotype-phenotype correlates of 'unknown-
etiology'infantile-onset developmental-epileptic encephalopathies (DEE) from India. The …

Purpose Drug-resistant epilepsy is seen in patients with inborn errors of metabolism and
metabolic dysfunction in neurons is crucial to brain disorders associated with psychomotor …

We report a patient with profound congenital hypotonia, central hypoventilation, poor visual
behaviour with retinal hypopigmentation, and significantly decreased mitochondrial …

Precision medicine approaches often rely on complex and integrative analyses of multiple
biomarkers from “omics” data to generate insights that can help with either diagnostic …

Recent changes in trend and variability of the main Southern Hemisphere climate modes
are driven by a variety of factors, including increasing atmospheric greenhouse gases …

The genetic causes of Leigh syndrome are heterogeneous, with a poor genotype–
phenotype correlation. To date, more than 50 nuclear genes cause nuclear gene-encoded …

BACKGROUND It is estimated that 2-3% of all infants worldwide (about 1 in every 1,600
births) are born with a craniofacial condition (CFC; WHO, 2003), which significantly affects …