From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care. (Record no. 29523404)

MARC details
000 -LEADER
fixed length control field 01669 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518031753.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 202003s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1530-0366
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/s41436-019-0499-9
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 de Koning, Maayke A
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20200317
245 00 - TITLE STATEMENT
Title From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Genetics in medicine : official journal of the American College of Medical Genetics
Date of publication, distribution, etc. 10 2019
300 ## - PHYSICAL DESCRIPTION
Extent 2303-2310 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Fetus
General subdivision diagnostic imaging
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Counseling
General subdivision methods
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 Pilot Projects
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pregnancy
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Prenatal Diagnosis
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Retrospective Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Ultrasonography, Prenatal
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome Sequencing
General subdivision ethics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Haak, Monique C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Adama van Scheltema, Phebe N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Peeters-Scholte, Cacha M P C D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Koopmann, Tamara T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nibbeling, Esther A R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Aten, Emmelien
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name den Hollander, Nicolette S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ruivenkamp, Claudia A L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hoffer, Mariëtte J V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Santen, Gijs W E
773 0# - HOST ITEM ENTRY
Title Genetics in medicine : official journal of the American College of Medical Genetics
Related parts vol. 21
-- no. 10
-- p. 2303-2310
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/s41436-019-0499-9">https://doi.org/10.1038/s41436-019-0499-9</a>
Public note Available from publisher's website

No items available.