Background: An ENDO-European Reference Network (ERN) initiative was launched that
was endorsed by the European Society for Pediatric Endocrinology and the European …

Purpose Congenital primary hypothyroidism (CH) is a state of inadequate thyroid hormone
production detected at birth, caused either by absent, underdeveloped or ectopic thyroid …

Postural orthostatic tachycardia syndrome (POTS) is a cardiovascular autonomic disorder
characterized by excessive heart rate increase on standing, leading to debilitating symptoms …

The cellular and molecular mediators of peri-implant fibrosis—a most common reason for
implant failure and for surgical revision after the replacement of a prosthetic joint—remain …

Platelets are anuclear cells with a short lifespan that play an essential role in many
pathophysiological processes, including haemostasis, inflammation, infection, vascular …

Introduction Congenital hypothyroidism (CH) is the most frequent neonatal endocrine
disorder and one of the most common preventable forms of mental retardation worldwide …

Many human genetic disorders are caused by mutations in protein‐coding regions of DNA.
Taking protein structure into account has therefore provided key insight into the molecular …

Congenital hypothyroidism (CH) is a neonatal endocrine disorder that might occur as itself
or be associated to congenital extra‐thyroidal defects. About 85% of affected subjects …

Abstract β1-Tubulin plays a major role in proplatelet formation and platelet shape
maintenance, and pathogenic variants in TUBB1 lead to thrombocytopenia and platelet …

Cells rely heavily on microtubules for several processes, including cell division and
molecular trafficking. Mutations in the different tubulin-α and-β proteins that comprise …