Autism spectrum disorder (ASD) comprises a heterogeneous group of neurodevelopmental
outcomes in children with a commonality in deficits in social communication and language …

Methylation tests have been used for decades in regular DNA diagnostics focusing primarily
on Imprinting disorders or specific loci annotated to specific disease associated gene …

Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of
rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian …

Sequence-based genetic testing identifies causative variants in~ 50% of individuals with
developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA …

Introduction. Shwachman-Diamond Syndrome (SDS) is an autosomal-recessive disorder
characterized by neutropenia, pancreatic exocrine insufficiency, skeletal dysplasia, and an …

Danon disease is a rare x-linked dominant multisystemic disorder with a clinical triad of
severe cardiomyopathy, skeletal myopathy, and intellectual disability. It is caused by defects …

The lysine methyltransferase 2B (KMT2B) gene product is important for epigenetic
modifications associated with active gene transcription in normal development and in …

Introduction Van der Woude Syndrome (VWS) is an autosomal dominant disorder
responsible for 2% of all syndromic orofacial clefts (OFCs) with IRF6 being the primary …

Аннотация Согласованная работа эпигенетических механизмов регуляции экспрессии
генов (метилирования ДНК, модификаций гистонов, воздействия некодирующих РНК) …

Sažetak Neurorazvojni poremećaji skupina su poremećaja s teškoćama u osobnom,
socijalnom, akademskom i/ili okupacijskom funkcioniranju, a za sve više njih se otkriva …