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Süt Çocukluğunun Geçici Hipogamaglobulinemisinde B Lenfosit Alt Grupları
(Tıp Fakültesi, 2011-05-02)
Transient hypogammaglobulinemia of infancy (THI) is one of the most common immunodefciency disease diagnosed in immunology clinics, but its definition and pathogenesis is still unclear. In this study to see whether there ...
Genetic Spectrum Of Hereditary Neuropathies With Onset In The First Year Of Life
(2011)
Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine–Sottas neuropathy starting in ...
Clinical Heterogeneity And Diagnostic Delay Of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome
(Academic Press Inc Elsevier Science, 2011)
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive organ-specific autoimmune disorder that is characterized by a variable combination of (i) chronic mucocutaneous candidiasis, ...
Exome Sequencing And Cis-Regulatory Mapping Identify Mutations In Mak, A Gene Encoding A Regulator Of Ciliary Length, As A Cause Of Retinitis Pigmentosa
(Cell Press, 2011)
A fundamental challenge in analyzing exome-sequence data is distinguishing pathogenic mutations from background polymorphisms. To address this problem in the context of a genetically heterogeneous disease, retinitis ...
Craniosynostosis And Multiple Skeletal Anomalies In Humans And Zebrafish Result From A Defect In The Localized Degradation Of Retinoic Acid
(Cell Press, 2011)
Excess exogenous retinoic acid (RA) has been well documented to have teratogenic effects in the limb and craniofacial skeleton. Malformations that have been observed in this context include craniosynostosis, a common ...
Evaluation Of Diagnostic Accuracy Of Portable Echocardiography In Newborns
(Aves Yayincilik, 2011)
Objective: Congenital heart disease is the most common life-threatening anomaly in the neonatal period. Screening for this disease with portable echocardiography is crucial to diagnose in the early period, and it has ...