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Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey (vol 36, pg 220, 2016)
(SPRINGER/PLENUM PUBLISHERS, 2016)
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Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism
(GALENOS YAYINCILIK, 2016)
Objective: Mutations in the K-ATP channel genes is the most common cause of congenital hyperinsulinism (CHI) of infancy. Our aim was to report the clinical and genetic characteristics, treatment modalities, and long-term ...
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
(SPRINGER/PLENUM PUBLISHERS, 2016)
Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of ...
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort
(ENDOCRINE SOC, 2016)
Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular ...