Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures. (Record no. 29010395)

MARC details
000 -LEADER
fixed length control field 01448 a2200433 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518005030.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201901s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 2324-9269
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/mgg3.490
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 Elbracht, Miriam
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20190123
245 00 - TITLE STATEMENT
Title Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Molecular genetics & genomic medicine
Date of publication, distribution, etc. 11 2018
300 ## - PHYSICAL DESCRIPTION
Extent 1255-1260 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article
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 Contracture
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 Heterozygote
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 Hypokinesia
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation, Missense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Nedd4 Ubiquitin Protein Ligases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Periventricular Nodular Heterotopia
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Syndrome
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kraft, Florian
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Begemann, Matthias
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Holschbach, Petra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mull, Michael
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kabat, Ildiko M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Müller, Britta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Häusler, Martin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kurth, Ingo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hehr, Ute
773 0# - HOST ITEM ENTRY
Title Molecular genetics & genomic medicine
Related parts vol. 6
-- no. 6
-- p. 1255-1260
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/mgg3.490">https://doi.org/10.1002/mgg3.490</a>
Public note Available from publisher's website

No items available.