The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

Journal name: Journal of human genetics / Japan Society of Human Genetics 58(2):2013.2

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Material Type: 記事
Title: The diagnostic utility of exome sequencing in Joubert syndrome and related disorders
Author/Editor: Yoshinori Tsurusaki
Yasuko Kobayashi
Masataka Hisano 他
Author Heading: Yoshinori Tsurusaki
Yasuko Kobayashi
Masataka Hisano
Periodical title: Journal of human genetics / Japan Society of Human Genetics
No. or year of volume/issue: 58(2):2013.2
Volume: 58
Issue: 2
Pages: 113-115
Publication date of volume/issue (W3CDTF): 2013-02
ISSN (Periodical Title): 1434-5161
Publication (Periodical Title): Tokyo : Springer Nature
Place of Publication (Country Code): JP
Text Language Code: eng
Subject Heading: CEP290
exome sequencing
INPP5E
Joubert syndrome
molecular diagnosis
TMEM67
NDLC: ZS16
Target Audience: 一般
Holding library: 国立国会図書館
Call No.: Z54-H248
Data Provider (Database): 国立国会図書館 : 国立国会図書館雑誌記事索引
https://ndlsearch.ndl.go.jp
Bibliographic ID (NDL): 024272472
http://id.ndl.go.jp/bib/024272472
Bibliographic Record Category (NDL): 632