Recurrent episodes of strokes in a young adult
Publiction in „Journal of Clinical Neuroscience” Regarding the issue of recurrent episodes of stroke in a young adult, the “Journal […]
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Carboxypeptidase A1 gene mutations in chronic pancreatitis
The molecular genetic diagnostic approach to suspected chronic pancreatitis with early onset (
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Leber congenital amaurosis
Leber congenital amaurosis is one of the most serious hereditary retinal diseases and affected children often develop blindness in the […]
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Hereditary fever syndromes
The hereditary fever syndromes are a group of monogenic diseases that are characterized by recurrent episodes of fever and inflammation. […]
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Cytogenetic risk assessment of myelodysplastic syndromes
Myelodysplastic syndromes (MDS) are a heterogeneous group of acquired bone marrow disorders characterized by ineffective hematopoiesis with cytopenia and dysplasia […]
