First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization. (Record no. 16358552)

MARC details
000 -LEADER
fixed length control field 01500 a2200433 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515031131.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200607s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1769-7212
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ejmg.2005.07.002
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 Gamerdinger, Ulrike
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20060727
245 00 - TITLE STATEMENT
Title First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization.
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 225-34 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 Chromosome Disorders
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 3
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cytogenetic Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Face
General subdivision abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Duplication
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hip Dislocation, Congenital
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 In Situ Hybridization, Fluorescence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infant
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 Karyotyping
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Microsatellite Repeats
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 Trisomy
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bosse, Kristin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Eggermann, Thomas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kalscheuer, Vera
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schwanitz, Gesa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Engels, Hartmut
773 0# - HOST ITEM ENTRY
Title European journal of medical genetics
Related parts vol. 49
-- no. 3
-- p. 225-34
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ejmg.2005.07.002">https://doi.org/10.1016/j.ejmg.2005.07.002</a>
Public note Available from publisher's website

No items available.