A woman with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome

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DOI[10.1007/s13730-020-00543-0]to the data of the same series

A woman with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome

Persistent ID (NDL): info:ndljp/pid/11675087

Material type: 記事

Author: Yu Tanakaほか

Publisher: Springer Nature

Publication date: 2020-10-13

Material Format: Digital

Journal name: CEN case reports 10(2)

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Summary, etc.：: コレクション : 国立国会図書館デジタルコレクション > 電子書籍・電子雑誌 > その他(Provided by: CiNii Research)

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Material Type: 記事
Title: A woman with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome
Author/Editor: Yu Tanaka
Naoya Morisada
Tomohiro Suzuki
Publication, Distribution, etc.: 日本 : Springer Nature
Publication Date: 2020-10-13
Publication Date (W3CDTF): 2020-10-13
Periodical title: CEN case reports
No. or year of volume/issue: 10(2)
Volume: 10(2)
ISSN (Periodical Title): 2192-4449
Text Language Code: eng
DOI: 10.1007/s13730-020-00543-0
https://doi.org/10.1007/s13730-020-00543-0
Persistent ID (NDL): info:ndljp/pid/11675087
https://dl.ndl.go.jp/pid/11675087
Collection: 障害者向け資料
Collection (Materials For Handicapped People:1): テキストデータ
Collection (particular): 国立国会図書館デジタルコレクション > 電子書籍・電子雑誌 > その他
https://dl.ndl.go.jp/collections/B00035
Acquisition Basis: オンライン資料収集制度
Date Accepted (W3CDTF): 2021-05-28T18:00:25+09:00
Date Captured (W3CDTF): 2021-05-11
Format (IMT): application/pdf
Access Restrictions: 国立国会図書館内限定公開
Service for the Digitized Contents Transmission Service: 図書館・個人送信対象外
Availability of remote photoduplication service: 可
Periodical Title (URI): https://link.springer.com/article/10.1007/s13730-020-00543-0
Periodical Title (Persistent ID (NDL)): info:ndljp/pid/11675082
https://dl.ndl.go.jp/pid/11675082
Data Provider (Database): 国立国会図書館 : 国立国会図書館デジタルコレクション
https://dl.ndl.go.jp

Digital

Summary, etc.: コレクション : 国立国会図書館デジタルコレクション > 電子書籍・電子雑誌 > その他
DOI: 10.1007/s13730-020-00543-0
https://doi.org/10.1007/s13730-020-00543-0
Related Material (URI): http://id.ndl.go.jp/digimeta/11675087
https://dl.ndl.go.jp/pid/11675087
https://link.springer.com/content/pdf/10.1007/s13730-020-00543-0.pdf
https://link.springer.com/article/10.1007/s13730-020-00543-0/fulltext.html
References: Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
https://cir.nii.ac.jp/crid/1360011142930165760
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report
https://cir.nii.ac.jp/crid/1360292620901749376
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
https://cir.nii.ac.jp/crid/1360574095391101824
KBG syndrome
https://cir.nii.ac.jp/crid/1362544418351590272
Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease
https://cir.nii.ac.jp/crid/1363107368619324032
Efficacy of Allopurinol in Ameliorating the Progressive Renal Disease in Familial Juvenile Hyperuricaemic Nephropathy (FJHN)
https://cir.nii.ac.jp/crid/1363670318657955840
Data Provider (Database): 国立情報学研究所 : CiNii Research
https://cir.nii.ac.jp/
Original Data Provider (Database): 雑誌記事索引データベース
https://ndlsearch.ndl.go.jp
Crossref
https://www.crossref.org
科学研究費助成事業データベース
https://kaken.nii.ac.jp/ja
Bibliographic ID (NDL): 11675087
http://id.ndl.go.jp/bib/11675087

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