16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems. (Record no. 24406260)

MARC details
000 -LEADER
fixed length control field 01537 a2200409 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517004331.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201507s 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.2014.09.009
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 Gerundino, Francesca
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20150724
245 00 - TITLE STATEMENT
Title 16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems.
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 649-53 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 Abnormalities, Multiple
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adenosine Triphosphatases
General subdivision genetics
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 Chromosome Deletion
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Disorders
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 16
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Developmental Disabilities
General subdivision diagnosis
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 Language Development Disorders
General subdivision diagnosis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Marseglia, Guiseppina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pescucci, Chiara
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pelo, Elisabetta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Benelli, Matteo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Giachini, Claudia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Federighi, Benedetta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Antonelli, Carla
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Torricelli, Francesca
773 0# - HOST ITEM ENTRY
Title European journal of medical genetics
Related parts vol. 57
-- no. 11-12
-- p. 649-53
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ejmg.2014.09.009">https://doi.org/10.1016/j.ejmg.2014.09.009</a>
Public note Available from publisher's website

No items available.