Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. (Record no. 19177402)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01607 a2200505 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515190123.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201005s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1528-1167 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/j.1528-1167.2009.02308.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 | Mei, Davide |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20100503 |
| 245 00 - TITLE STATEMENT | |
| Title | Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Epilepsia |
| Date of publication, distribution, etc. | Apr 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 647-54 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 | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alleles |
| 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 | 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 | DNA Mutational Analysis |
| 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 | Epilepsy |
| 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 | Gene Duplication |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Rett Syndrome |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spasms, Infantile |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marini, Carla |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Novara, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bernardina, Bernardo D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Granata, Tiziana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fontana, Elena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Parrini, Elena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ferrari, Anna R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Murgia, Alessandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zuffardi, Orsetta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guerrini, Renzo |
| 773 0# - HOST ITEM ENTRY | |
| Title | Epilepsia |
| Related parts | vol. 51 |
| -- | no. 4 |
| -- | p. 647-54 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/j.1528-1167.2009.02308.x">https://doi.org/10.1111/j.1528-1167.2009.02308.x</a> |
| Public note | Available from publisher's website |
No items available.