Male patients affected by mosaic PCDH19 mutations: five new cases. (Record no. 27330438)

MARC details
000 -LEADER
fixed length control field 01646 a2200553 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517162403.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201804s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1364-6753
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1007/s10048-017-0517-5
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 Lange, I M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20180424
245 00 - TITLE STATEMENT
Title Male patients affected by mosaic PCDH19 mutations: five new cases.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Neurogenetics
Date of publication, distribution, etc. Jul 2017
300 ## - PHYSICAL DESCRIPTION
Extent 147-153 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 Cadherins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Epilepsy
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 Genetic Predisposition to Disease
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 High-Throughput Nucleotide Sequencing
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 Intellectual Disability
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
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protocadherins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Seizures
General subdivision complications
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sex Factors
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rump, P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Neuteboom, R F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Augustijn, P B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hodges, K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kistemaker, A I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brouwer, O F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mancini, G M S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Newman, H A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vos, Y J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Helbig, K L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Peeters-Scholte, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kriek, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Knoers, N V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lindhout, D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Koeleman, B P C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Kempen, M J A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brilstra, E H
773 0# - HOST ITEM ENTRY
Title Neurogenetics
Related parts vol. 18
-- no. 3
-- p. 147-153
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1007/s10048-017-0517-5">https://doi.org/10.1007/s10048-017-0517-5</a>
Public note Available from publisher's website

No items available.