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Updated: Mar 10, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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阴道菌株中断综合征是由新型化合物异构基因突变引起的KATNIP基因中的异构基因突变

S Bahar Akin1, I Tolga Ozgen2, B Uyanik3

  • 1Health Sciences University Derince Training and Research Hospital - Department of Pediatrics, Division of Pediatric Endocrinology, Kocaeli.

Acta endocrinologica (Bucharest, Romania : 2005)
|March 9, 2026
PubMed
概括

在儿童中,垂体茎中断综合征 (PSIS) 与生长激素和其他激素缺乏有关. 基因分析在KATNIP基因中发现了新型化合物异合体变异体,进步了对PSIS病因学的理解.

关键词:
结合性垂体激素缺乏症 结合性垂体激素缺乏症这就是KATNIP基因.化合物异位新型突变 新型突变.pituitary stalk中断综合征 pituitary stalk中断综合征 pituitary stalk中断综合征 pituitary stalk中断综合征 pituitary stalk中断综合征

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Utilizing 18F-FDG PET/CT Imaging and Quantitative Histology to Measure Dynamic Changes in the Glucose Metabolism in Mouse Models of Lung Cancer06:51

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