Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. (Record no. 23242771)
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000 -LEADER | |
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fixed length control field | 02113 a2200649 4500 |
005 - DATE AND TIME OF LATEST TRANSACTION | |
control field | 20250516180652.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 201408s 0 0 eng d |
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
International Standard Serial Number | 1468-6244 |
024 7# - OTHER STANDARD IDENTIFIER | |
Standard number or code | 10.1136/jmedgenet-2013-101937 |
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 | Lindstrand, Anna |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 20140808 |
245 00 - TITLE STATEMENT | |
Title | Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. |
Medium | [electronic resource] |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Name of publisher, distributor, etc. | Journal of medical genetics |
Date of publication, distribution, etc. | Jan 2014 |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 45-54 p. |
Other physical details | digital |
500 ## - GENERAL NOTE | |
General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Animals |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Comparative Genomic Hybridization |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Cyclic Nucleotide Phosphodiesterases, Type 4 |
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 | Dysostoses |
General subdivision | diagnosis |
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 | Gene Expression |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Gene Order |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Genetic Association Studies |
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 | diagnosis |
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 | Mutation |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Osteochondrodysplasias |
General subdivision | diagnosis |
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 | Point Mutation |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Zebrafish |
General subdivision | genetics |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Grigelioniene, Giedre |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Nilsson, Daniel |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Pettersson, Maria |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Hofmeister, Wolfgang |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Anderlid, Britt-Marie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kant, Sarina G |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Ruivenkamp, Claudia A L |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Gustavsson, Peter |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Valta, Helena |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Geiberger, Stefan |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Topa, Alexandra |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lagerstedt-Robinson, Kristina |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Taylan, Fulya |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Wincent, Josephine |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Laurell, Tobias |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Pekkinen, Minna |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Nordenskjöld, Magnus |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Mäkitie, Outi |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Nordgren, Ann |
773 0# - HOST ITEM ENTRY | |
Title | Journal of medical genetics |
Related parts | vol. 51 |
-- | no. 1 |
-- | p. 45-54 |
856 40 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2013-101937">https://doi.org/10.1136/jmedgenet-2013-101937</a> |
Public note | Available from publisher's website |
No items available.