Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology

Antosik Karolina; Gnys Piotr; De Franco Elisa; Borowiec Maciej; Mysliwiec Malgorzata; Ellard Sian; Mlynarski Wojciech

首页> 外文期刊>Acta diabetologica. >Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology

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Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology

机译：通过靶向的下一代测序技术，成功将GCK-MODY系列中的单例患者重新诊断为GCK-PNDM

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《Acta diabetologica.》 |2016年第2期|共2页
作者
Antosik Karolina; Gnys Piotr; De Franco Elisa; Borowiec Maciej; Mysliwiec Malgorzata; Ellard Sian; Mlynarski Wojciech;
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1. Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology [J] . Antosik Karolina, Gnys Piotr, De Franco Elisa, Acta diabetologica. . 2016,第2期

机译：通过靶向的下一代测序技术，成功将GCK-MODY系列中的单例患者重新诊断为GCK-PNDM
2. A highly flexible and repeatable genotyping method for aquaculture studies based on target amplicon sequencing using next-generation sequencing technology [J] . Mana Sato, Sho Hosoya, Sota Yoshikawa, Scientific reports. . 2019,第1期

机译：一种基于水产养殖研究的高度灵活且可重复的基因分型方法，该方法基于目标扩增子测序，并使用下一代测序技术
3. Advances in clinical next-generation sequencing: target enrichment and sequencing technologies [J] . Ballester Leomar Y., Luthra Rajyalakshmi, Kanagal-Shamanna Rashmi, Expert Review of Molecular Diagnostics . 2016,第3期

机译：临床下一代测序的进展：靶标富集和测序技术
4. Targeted profiling of 5-(hydroxy)methylcytosine in genomic DNA from human livers: Next-generation sequencing of target enriched DNA reveals unexpectedly high interindividual variability of cytosine methylation and hydroxymethylation [C] . Ivanov Maxim, Ingelman-Sundberg Magnus, Kals Mart, IEEE International Conference on Bioinformatics and Biomedicine . 2014

机译：人类肝脏基因组DNA中5-（羟）甲基胞嘧啶的靶向分析：富含靶DNA的下一代测序揭示了胞嘧啶甲基化和羟甲基化的意料之外的高度个体差异
5. Determining the mechanistics of chromatin regulated p63 targeting using next-generation sequencing methods [D] . Sethi, Isha 2016

机译：使用下一代测序方法确定染色质调节的p63靶向机制
6. Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology [O] . Karolina Antosik, Piotr Gnys, Elisa De Franco, -1

机译：通过靶向下一代测序技术成功将GCK-MODY系列中的单例患者重新诊断为GCK-PNDM
7. Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology [O] . Karolina Antosik, Piotr Gnys, Elisa De Franco, 2016

机译：通过靶向下一代测序技术，成功将GCK-MODY系列中的单例患者重新诊断为GCK-PNDM

Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology

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