Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis. (Record no. 29850288)

MARC details
000 -LEADER
fixed length control field 02117 a2200625 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518045520.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201908s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 2041-1723
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/s41467-019-10649-4
Source of number or code doi
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Deelen, Patrick
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20190819
245 00 - TITLE STATEMENT
Title Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Nature communications
Date of publication, distribution, etc. 06 2019
300 ## - PHYSICAL DESCRIPTION
Extent 2837 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Databases, Nucleic Acid
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Expression Regulation
General subdivision physiology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Predisposition to Disease
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Models, Genetic
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Principal Component Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Analysis, RNA
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Software
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Transcriptome
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element User-Computer Interface
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Dam, Sipko
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Herkert, Johanna C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Karjalainen, Juha M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brugge, Harm
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Personal name Abbott, Kristin M
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Personal name van Diemen, Cleo C
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Personal name van der Zwaag, Paul A
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Personal name Gerkes, Erica H
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Personal name Zonneveld-Huijssoon, Evelien
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Personal name Boer-Bergsma, Jelkje J
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Personal name Folkertsma, Pytrik
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Personal name Gillett, Tessa
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Personal name van der Velde, K Joeri
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Personal name Kanninga, Roan
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Personal name van den Akker, Peter C
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Personal name Jan, Sabrina Z
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Personal name Hoorntje, Edgar T
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Personal name Te Rijdt, Wouter P
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Personal name Vos, Yvonne J
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Personal name Jongbloed, Jan D H
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Personal name van Ravenswaaij-Arts, Conny M A
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Personal name Sinke, Richard
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Personal name Sikkema-Raddatz, Birgit
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Personal name Kerstjens-Frederikse, Wilhelmina S
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Personal name Swertz, Morris A
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Personal name Franke, Lude
773 0# - HOST ITEM ENTRY
Title Nature communications
Related parts vol. 10
-- no. 1
-- p. 2837
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/s41467-019-10649-4">https://doi.org/10.1038/s41467-019-10649-4</a>
Public note Available from publisher's website

No items available.