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Titlebook: JIMD Reports, Volume 23; Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men

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書(shū)目名稱(chēng)JIMD Reports, Volume 23
編輯Johannes Zschocke,Matthias Baumgartner,Verena Pete
視頻videohttp://file.papertrans.cn/501/500061/500061.mp4
概述Unique collection of case and research reports on rare metabolic disorders.Contains unusual or previously unrecorded features relevant to metabolic disorders.All contributions rigorously peer-reviewed
叢書(shū)名稱(chēng)JIMD Reports
圖書(shū)封面Titlebook: JIMD Reports, Volume 23;  Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men
描述JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
出版日期Book 2015
關(guān)鍵詞Mendelian disorder; endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metabolic
版次1
doihttps://doi.org/10.1007/978-3-662-47467-9
isbn_softcover978-3-662-47466-2
isbn_ebook978-3-662-47467-9Series ISSN 2192-8304 Series E-ISSN 2192-8312
issn_series 2192-8304
copyrightSSIEM and Springer-Verlag Berlin Heidelberg 2015
The information of publication is updating

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,The Modulatory Effects of the Polymorphisms in , 5′-Untranslated Region Upon Gene Expression Are Ceuman cell lines. Group-wise, the relative luciferase expression patterns of the various . variant isoforms differed significantly in all four cell lines, as evaluated by non-parametric statistics, and were cell-type specific. Some of the post hoc pairwise statistical comparisons were also significan
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Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patous for c.985A>G and mutations other than c.199T>C (group 3) and 3 carried neither c.985A>G nor c.199T>C but other known homozygous mutations (group 4). At screening C8/C2 and C8/C10, at confirmation C8/C2, C8/C10 and C8/C12 differed significantly between patients compound heterozygous for c.199T>C
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