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Sonographic features of the testicular adrenal rests tumors in patients with congenital adrenal hyperplasia: a single center experience and literature review
ORPHANET JOURNAL OF RARE DISEASES
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View 17
Inherited ichthyoses: Molecular causes of the disease in Czech patients
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Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study
View 58
Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: Matching with osmotic fragility test and presence of spherocyte
View 76
Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study
View 34