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Toplam kayıt 5, listelenen: 1-5
Infectious Diseases, Autoimmunity and Midline Defect in A Patient with A Novel Bi-Allelic Mutation in IL12RB1 Gene
(2016)
Clinical disease caused by weakly pathogenic mycobacterial species, which is known as Mendelian susceptibility to mycobacterial disease (MSMD), is a rare entity. IFN-gamma and IL-17 production are defective due to insufficient ...
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 ...
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 ...
Long-Term Follow-Up of a Case with Nijmegen Breakage Syndrome
(2018)
The Nijmegen Breakage Syndrome (NBS) is a rare chromosomal instability disorder clinically characterized by microcephaly, typical facial appearance, growth and mental retardation, immunodeficiency and a significant ...
DiGeorge Syndrome
(2016)
DiGeorge syndrome, which is caused by abnormal development and migration of neural crest cells, is the most common microdeletion syndrome. The phenotype is variable due to the existence of more than 35 genes in the typical ...