Phenotypic spectrum of neonatal CHARGE syndrome. (Record no. 30442677)

MARC details
000 -LEADER
fixed length control field 01053 a2200325 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518074848.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 202005s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0717-6228
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.32641/rchped.v90i5.1080
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 Sánchez, N
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20200527
245 00 - TITLE STATEMENT
Title Phenotypic spectrum of neonatal CHARGE syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Revista chilena de pediatria
Date of publication, distribution, etc. Oct 2019
300 ## - PHYSICAL DESCRIPTION
Extent 533-538 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 CHARGE Syndrome
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Helicases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA-Binding Proteins
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 Infant, Newborn
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phenotype
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hernández, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cruz, J P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mellado, C
773 0# - HOST ITEM ENTRY
Title Revista chilena de pediatria
Related parts vol. 90
-- no. 5
-- p. 533-538
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.32641/rchped.v90i5.1080">https://doi.org/10.32641/rchped.v90i5.1080</a>
Public note Available from publisher's website

No items available.