Structure-function relationships of glycoprotein hormones; lessons from mutations and polymorphisms of the thyrotrophin and gonadotrophin subunit genes Posted on by Read More
Genetic diagnosis of idiopathic hypogonadotrophic hypogonadism: a new point mutation in the KAL2 gene Posted on by Read More
Precocious presentation of autoimmune polyglandular syndrome type 2 associated with an AIRE mutation Posted on by Read More
A novel mutation of the calcium-sensing receptor gene in a Greek family from Nisyros Posted on by Read More
Identification of an AVP-NPII mutation within the AVP moiety in a family with neurohypophyseal diabetes insipidus: review of the literature Posted on by Read More
Delayed diagnosis of disorder of sex development (DSD) due to P450 oxidoreductase (POR) deficiency Posted on by Read More