The genomic and clinical landscape of fetal akinesia. (Record no. 30266945)

MARC details
000 -LEADER
fixed length control field 02604 a2200793 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518065612.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 202102s 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/s41436-019-0680-1
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 Pergande, Matthias
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20210203
245 00 - TITLE STATEMENT
Title The genomic and clinical landscape of fetal akinesia.
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. 03 2020
300 ## - PHYSICAL DESCRIPTION
Extent 511-523 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 Adolescent
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Arthrogryposis
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Copy Number Variations
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 Fetal Diseases
General subdivision genetics
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 Guanine Nucleotide Exchange Factors
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element High-Throughput Nucleotide Sequencing
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 Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infant, Newborn
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscular Diseases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA-Binding Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Ryanodine Receptor Calcium Release Channel
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Trans-Activators
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Young Adult
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Motameny, Susanne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Özdemir, Özkan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kreutzer, Mona
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wang, Haicui
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Daimagüler, Hülya-Sevcan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Becker, Kerstin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Karakaya, Mert
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ehrhardt, Harald
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Elcioglu, Nursel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ostojic, Slavica
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chao, Cho-Ming
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kawalia, Amit
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Duman, Özgür
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Koy, Anne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hahn, Andreas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Reimann, Jens
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schoner, Katharina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schänzer, Anne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Westhoff, Jens H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schwaibold, Eva Maria Christina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cossee, Mireille
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Imbert-Bouteille, Marion
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name von Pein, Harald
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Haliloglu, Göknur
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Topaloglu, Haluk
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Altmüller, Janine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nürnberg, Peter
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thiele, Holger
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Heller, Raoul
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cirak, Sebahattin
773 0# - HOST ITEM ENTRY
Title Genetics in medicine : official journal of the American College of Medical Genetics
Related parts vol. 22
-- no. 3
-- p. 511-523
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/s41436-019-0680-1">https://doi.org/10.1038/s41436-019-0680-1</a>
Public note Available from publisher's website

No items available.