Ciliopathies are inherited human disorders caused by both motile and non‐motile cilia
dysfunction that form an important and rapidly expanding disease category. Ciliopathies are …

Abstract The Italian Consensus Position Statement on Diagnosis, Treatment and Prevention
of Obesity in Children and Adolescents integrates and updates the previous guidelines to …

Determining protein levels in each tissue and how they compare with RNA levels is
important for understanding human biology and disease as well as regulatory processes …

Male hypogonadism (MH) is a common endocrine disorder. However, uncertainties and
variations in its diagnosis and management exist. There are several current guidelines on …

Although next-generation sequencing has revolutionized the ability to associate variants
with human diseases, diagnostic rates and development of new therapies are still limited by …

As we enter the 21st century, a new era of nutrition in the prevention and treatment of
disease emerges. Clinical nutrition involves the integration of diet, genetics, environment …

Bardet‐Biedl syndrome (BBS) is a recessive genetic disease causing multiple organ
anomalies. Most patients carry mutations in genes encoding for the subunits of the BBSome …

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is
characterized by heterogeneous clinical manifestations including primary features of the …

Rs671 in the aldehyde dehydrogenase 2 gene (ALDH2) is the cause of Asian alcohol
flushing response after drinking. ALDH2 detoxifies endogenous aldehydes, which are the …

Bardet–Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement
and autosomal recessive inheritance. The clinical picture is extremely polymorphic. The …