1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. (Record no. 16813225)

MARC details
000 -LEADER
fixed length control field 01410 a2200421 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515054058.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200704s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0009-9163
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/j.1399-0004.2007.00750.x
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 Alberti, A
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20070411
245 00 - TITLE STATEMENT
Title 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Clinical genetics
Date of publication, distribution, etc. Feb 2007
300 ## - PHYSICAL DESCRIPTION
Extent 177-82 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Aneuploidy
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 Chromosomes, Human, Pair 22
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Craniofacial Abnormalities
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DiGeorge Syndrome
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 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 Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Syndrome
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Tandem Repeat Sequences
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Romano, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Falco, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Calì, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schinocca, P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Galesi, O
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Spalletta, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Di Benedetto, D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fichera, M
773 0# - HOST ITEM ENTRY
Title Clinical genetics
Related parts vol. 71
-- no. 2
-- p. 177-82
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/j.1399-0004.2007.00750.x">https://doi.org/10.1111/j.1399-0004.2007.00750.x</a>
Public note Available from publisher's website

No items available.