FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. (Record no. 26370213)

MARC details
000 -LEADER
fixed length control field 01792 a2200529 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517113115.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201711s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1468-6244
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1136/jmedgenet-2016-104094
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 Reuter, Miriam S
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20171101
245 00 - TITLE STATEMENT
Title FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of medical genetics
Date of publication, distribution, etc. 01 2017
300 ## - PHYSICAL DESCRIPTION
Extent 64-72 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 Developmental Disabilities
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Forkhead Transcription Factors
General subdivision genetics
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 Language Disorders
General subdivision genetics
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 Mutation, Missense
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Point Mutation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Deletion
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Speech
General subdivision physiology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Speech Disorders
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Riess, Angelika
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Moog, Ute
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Briggs, Tracy A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chandler, Kate E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rauch, Anita
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stampfer, Miriam
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Steindl, Katharina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gläser, Dieter
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Joset, Pascal
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Krumbiegel, Mandy
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rabe, Harald
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schulte-Mattler, Uta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bauer, Peter
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Beck-Wödl, Stefanie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kohlhase, Jürgen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Reis, André
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zweier, Christiane
773 0# - HOST ITEM ENTRY
Title Journal of medical genetics
Related parts vol. 54
-- no. 1
-- p. 64-72
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1136/jmedgenet-2016-104094">https://doi.org/10.1136/jmedgenet-2016-104094</a>
Public note Available from publisher's website

No items available.