Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception. (Record no. 18497098)

MARC details
000 -LEADER
fixed length control field 01525 a2200421 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515150929.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200904s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1878-0849
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ejmg.2008.11.002
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 Poot, Martin
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20090428
245 00 - TITLE STATEMENT
Title Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. European journal of medical genetics
Date of publication, distribution, etc.
300 ## - PHYSICAL DESCRIPTION
Extent 27-30 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 Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Brain
General subdivision growth & development
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell Adhesion Molecules, Neuronal
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Aberrations
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Mapping
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 6
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cytogenetic Analysis
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Face
General subdivision physiopathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Family Health
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 Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptor, Cannabinoid, CB1
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Somatosensory Disorders
General subdivision genetics
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 van't Slot, Ruben
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Leupert, Romina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Beyer, Vera
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Passarge, Eberhard
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Haaf, Thomas
773 0# - HOST ITEM ENTRY
Title European journal of medical genetics
Related parts vol. 52
-- no. 1
-- p. 27-30
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ejmg.2008.11.002">https://doi.org/10.1016/j.ejmg.2008.11.002</a>
Public note Available from publisher's website

No items available.