Mosaic microdeletion 18q21 as a cause of mental retardation. (Record no. 20146246)
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000 -LEADER | |
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fixed length control field | 01429 a2200397 4500 |
005 - DATE AND TIME OF LATEST TRANSACTION | |
control field | 20250516001612.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 201106s 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.2010.08.005 |
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 | Stavropoulos, Dimitri J |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 20110615 |
245 00 - TITLE STATEMENT | |
Title | Mosaic microdeletion 18q21 as a cause of mental retardation. |
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 | 396-9 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 | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Child |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Chromosomes, Human, Pair 18 |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Comparative Genomic Hybridization |
General subdivision | methods |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Cytogenetic Analysis |
General subdivision | methods |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Facies |
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 | Gene Deletion |
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 | Hyperventilation |
General subdivision | diagnosis |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Intellectual Disability |
General subdivision | diagnosis |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Microcephaly |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Transcription Factor 4 |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Transcription Factors |
General subdivision | genetics |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | MacGregor, Daune L |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Yoon, Grace |
773 0# - HOST ITEM ENTRY | |
Title | European journal of medical genetics |
Related parts | vol. 53 |
-- | no. 6 |
-- | p. 396-9 |
856 40 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ejmg.2010.08.005">https://doi.org/10.1016/j.ejmg.2010.08.005</a> |
Public note | Available from publisher's website |
No items available.