Konu "22q11.2 deletion syndrome" için Fakülteler / Faculties listeleme
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Familial 22q11.2 deletion syndrome with autosomal dominant inheritance
(2016)22q11.2 deletion syndrome is the most frequent microdeletion syndrome in humans and caused by hemizygote deletion on only one chromosome. Most of probands have a de novo deletion of 22q11.2, but 8-20% have inherited the ... -
Would Mean Platelet Volume/Platelet Count Ratio Be Used as A Novel Formula to Predict 22q11.2 Deletion Syndrome?
(2016)Background: The diagnosis of 22q11.2 deletion syndrome depends on a time-consuming and expensive method, fluorescence in situ hybridisation (FISH). Objectives: We aimed to determine new parameters which can aid for in ...