气泡
发表于 2025-3-21 17:12:10
书目名称JIMD Reports, Volume 27影响因子(影响力)<br> http://figure.impactfactor.cn/if/?ISSN=BK0500065<br><br> <br><br>书目名称JIMD Reports, Volume 27影响因子(影响力)学科排名<br> http://figure.impactfactor.cn/ifr/?ISSN=BK0500065<br><br> <br><br>书目名称JIMD Reports, Volume 27网络公开度<br> http://figure.impactfactor.cn/at/?ISSN=BK0500065<br><br> <br><br>书目名称JIMD Reports, Volume 27网络公开度学科排名<br> http://figure.impactfactor.cn/atr/?ISSN=BK0500065<br><br> <br><br>书目名称JIMD Reports, Volume 27被引频次<br> http://figure.impactfactor.cn/tc/?ISSN=BK0500065<br><br> <br><br>书目名称JIMD Reports, Volume 27被引频次学科排名<br> http://figure.impactfactor.cn/tcr/?ISSN=BK0500065<br><br> <br><br>书目名称JIMD Reports, Volume 27年度引用<br> http://figure.impactfactor.cn/ii/?ISSN=BK0500065<br><br> <br><br>书目名称JIMD Reports, Volume 27年度引用学科排名<br> http://figure.impactfactor.cn/iir/?ISSN=BK0500065<br><br> <br><br>书目名称JIMD Reports, Volume 27读者反馈<br> http://figure.impactfactor.cn/5y/?ISSN=BK0500065<br><br> <br><br>书目名称JIMD Reports, Volume 27读者反馈学科排名<br> http://figure.impactfactor.cn/5yr/?ISSN=BK0500065<br><br> <br><br>
后退
发表于 2025-3-21 21:53:58
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JUST
发表于 2025-3-22 00:25:05
, Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patlic carnitine and lactate are increased in both plasma and urine. Thus far, eight different disease-causing . mutations, of which six missense mutations and two splice site mutations, have been described in the literature. Here, we present the first patient with an intragenic deletion in . and review the patients described in literature.
stratum-corneum
发表于 2025-3-22 04:45:53
Further Delineation of the ALG9-CDG Phenotype,global atrophy with delayed myelination. Exome sequencing identified a novel homozygous mutation c.1075G>A, p.E359K of the ALG9 gene. The results of our analysis of these patients expand the knowledge of ALG9-CDG phenotype.
growth-factor
发表于 2025-3-22 10:55:53
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我正派
发表于 2025-3-22 13:21:39
JIMD Reports, Volume 27978-3-662-50409-3Series ISSN 2192-8304 Series E-ISSN 2192-8312
没有准备
发表于 2025-3-22 20:00:29
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HEED
发表于 2025-3-22 21:57:27
JIMD Reportshttp://image.papertrans.cn/j/image/500065.jpg
legacy
发表于 2025-3-23 04:19:23
Book 2016JIMD 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.
你不公正
发表于 2025-3-23 07:58:17
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