Carboxypeptidase A1 gene mutations in chronic pancreatitis
The molecular genetic diagnostic approach to suspected chronic pancreatitis with early onset (
The molecular genetic diagnostic approach to suspected chronic pancreatitis with early onset (
Leber congenital amaurosis is one of the most serious hereditary retinal diseases and affected children often develop blindness in the […]
The hereditary fever syndromes are a group of monogenic diseases that are characterized by recurrent episodes of fever and inflammation. […]
Myelodysplastic syndromes (MDS) are a heterogeneous group of acquired bone marrow disorders characterized by ineffective hematopoiesis with cytopenia and dysplasia […]