1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. (Record no. 16813225)
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000 -LEADER | |
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fixed length control field | 01410 a2200421 4500 |
005 - DATE AND TIME OF LATEST TRANSACTION | |
control field | 20250515054058.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 200704s 0 0 eng d |
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
International Standard Serial Number | 0009-9163 |
024 7# - OTHER STANDARD IDENTIFIER | |
Standard number or code | 10.1111/j.1399-0004.2007.00750.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 | Alberti, A |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 20070411 |
245 00 - TITLE STATEMENT | |
Title | 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. |
Medium | [electronic resource] |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Name of publisher, distributor, etc. | Clinical genetics |
Date of publication, distribution, etc. | Feb 2007 |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 177-82 p. |
Other physical details | digital |
500 ## - GENERAL NOTE | |
General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Aneuploidy |
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 | Chromosomes, Human, Pair 22 |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Craniofacial Abnormalities |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | DiGeorge Syndrome |
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 | Intellectual Disability |
General subdivision | genetics |
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 | Syndrome |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Tandem Repeat Sequences |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Romano, C |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Falco, M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Calì, F |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Schinocca, P |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Galesi, O |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Spalletta, A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Di Benedetto, D |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Fichera, M |
773 0# - HOST ITEM ENTRY | |
Title | Clinical genetics |
Related parts | vol. 71 |
-- | no. 2 |
-- | p. 177-82 |
856 40 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="https://doi.org/10.1111/j.1399-0004.2007.00750.x">https://doi.org/10.1111/j.1399-0004.2007.00750.x</a> |
Public note | Available from publisher's website |
No items available.