NDLTD Global ETD Search
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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.

Search results

Showing 1 to 2 of 2 (0.082 seconds)
1

Detection and Classification of Sequence Variants for Diagnostic Evaluation of Genetic Disorders

Kothiyal, Prachi 05 August 2010 (has links)
No description available.
Bioinformatics
resequencing
base-calling
missense variant analysis
support vector machine
2

Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels / ３つの代謝症候群関連遺伝子にみられるミスセンス変異は、α１アンチトリプシン量に関連する

Setoh, Kazuya 25 January 2016 (has links)
京都大学 / 0048 / 新制・課程博士 / 博士(医学) / 甲第19402号 / 医博第4053号 / 新制||医||1012(附属図書館) / 32427 / 京都大学大学院医学研究科医学専攻 / (主査)教授 佐藤 俊哉, 教授 小川 誠司, 教授 横出 正之 / 学位規則第4条第1項該当 / Doctor of Medical Science / Kyoto University / DFAM
Alpha-1 antitrypsin
Genome-wide association study
missense variant
metabolic-syndrome
490

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