SAT-072 A NOVEL MUTATION IN THE CNNM2 GENE CAUSING HYPOMAGNESAEMIA AND NEUROLOGICAL IMPAIRMENT IN AN ADOLESCENT
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چکیده
منابع مشابه
identifying the strategies persian efl learners use in reading an expository text in english and examining its relation to reading-proficiency and motivation: a think-aloud study
هدف اصلی از این مطالعه بررسی نوع و میزان استراتژی هایی بود که دانشجویان فارسی زبان رشته ی زبان انگلیسی در حین خواندن یک متن انگلیسی به کار گرفتند. این مطالعه همچنین به بررسی تفاوت های استراتژی های مورد استفاده بین دارندگان سطح بالا و پایین درک مطلب پرداخت. نوع همبستگی بین استراتژی به کار گرفته و درک مطلب از یک سو و استراتژی به کار گرفته و انگیزه از سوی دیگر نیز در این تحقیق مورد آزمایش قرار گرف...
15 صفحه اولIdentification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome
Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this study, a mutation causing Jalili syndrome, was investigated in an Iranian family. Case Report: The...
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The DFNB1 subtype of autosomal recessive, nonsyndromic hearing impairment, caused by mutations affecting the GJB2 (connexin-26) [corrected] gene, is highly prevalent in most populations worldwide. DFNB1 hearing impairment is mostly severe or profound and usually appears before the acquisition of speech (prelingual onset), though a small number of hypomorphic missense mutations result in mild or...
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ژورنال
عنوان ژورنال: Kidney International Reports
سال: 2020
ISSN: 2468-0249
DOI: 10.1016/j.ekir.2020.02.078