Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis. (Record no. 29992261)

MARC details
000 -LEADER
fixed length control field 01158 a2200301 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518053710.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 202004s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1750-1172
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1186/s13023-019-1170-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 Rozas, M Fernanda
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20200427
245 00 - TITLE STATEMENT
Title Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Orphanet journal of rare diseases
Date of publication, distribution, etc. 08 2019
300 ## - PHYSICAL DESCRIPTION
Extent 195 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't; Review; Systematic Review
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Arachnodactyly
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Deletion
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Craniosynostoses
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 Marfan Syndrome
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phenotype
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Benavides, Felipe
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name León, Luis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Repetto, Gabriela M
773 0# - HOST ITEM ENTRY
Title Orphanet journal of rare diseases
Related parts vol. 14
-- no. 1
-- p. 195
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1186/s13023-019-1170-x">https://doi.org/10.1186/s13023-019-1170-x</a>
Public note Available from publisher's website

No items available.