The VACTERL association is characterized as a non‐random pattern of defects including at
least three of the following cardinal features: vertebral anomalies, anal atresia …

Background. Rotavirus is recognized as a significant cause of pediatric gastroenteritis
worldwide. Comprehensive data on the burden of rotavirus disease in Europe were lacking …

The current standard of care for diagnosis of severe intellectual disability (ID) and epileptic
encephalopathy (EE) results in a diagnostic yield of∼ 50%. Affected individuals nonetheless …

Background The early gonad is bipotential and can differentiate into either a testis or an
ovary. In XY embryos, the SRY gene triggers testicular differentiation and subsequent male …

Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger
anomaly, and teething delay (SHORT) syndrome is a developmental disorder with an …

From a large series of 1009 probands with pathogenic FBN1 mutations, data for 320
patients< 18 years of age at the last follow-up evaluation were analyzed (32%). At the time of …

BACKGROUND: Human metapneumovirus (hMPV) has recently been isolated from children
with acute respiratory tract infections (RTIs). The epidemiological and clinical characteristics …

Centrioles are microtubule-based, barrel-shaped structures that initiate the assembly of
centrosomes and cilia,. How centriole length is precisely set remains elusive. The …

Background DYRK1A plays different functions during development, with an important role in
controlling brain growth through neuronal proliferation and neurogenesis. It is expressed in …

Background. Morbidity and resource use due to rotavirus gastroenteritis (RVGE) are
substantial in Europe, although comprehensive data on the economic impact of the disease …