Two Faces of LRBA Deficiency in Siblings: Hypogammaglobulinemia and Normal Immunoglobulin Levels
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چکیده
منابع مشابه
comparison of the amount of debris extruded apically in two rotary techniques: flexmaster and m2
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15 صفحه اول: the effect of sericin levels (silk glue protein) on rate of in vitro maturation, fertilization and culture of sheep oocytes
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an investigation of accuracy and complexity across different proficiency levels in written narrative task
abstract this quasi-experimental study was aimed at examining the impact of storyline complexity on the grammatical accuracy and complexity of advanced and intermediate efl learners. a total of 65 advanced and intermediate efl learners were selected from iran language institute (ili). an intact group including 35 intermediate participants and another intact group with 30 advanced participants ...
Two Greek siblings with sepiapterin reductase deficiency.
BACKGROUND Sepiapterin reductase (SR) deficiency is a rare inherited disorder of neurotransmitter metabolism; less than 25 cases have been described in the literature so far. METHODS We describe the clinical history and extensive cerebrospinal fluid (CSF) and urine examination of two Greek siblings with the diagnosis of SR deficiency. The diagnosis was confirmed by enzyme activity measurement...
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ژورنال
عنوان ژورنال: Journal of Investigational Allergology and Clinical Immunology
سال: 2018
ISSN: 1018-9068
DOI: 10.18176/jiaci.0205