Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. (Record no. 18897612)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01867 a2200565 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515172608.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200912s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1364-6753 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s10048-009-0195-z |
| 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 | Erez, Ayelet |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20091207 |
| 245 00 - TITLE STATEMENT | |
| Title | Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neurogenetics |
| Date of publication, distribution, etc. | Oct 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 363-9 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 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 | Age of Onset |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 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 | Comparative Genomic Hybridization |
| 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 | 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 | 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 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 | Protein Serine-Threonine Kinases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Rett Syndrome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Seizures |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | X Chromosome Inactivation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Patel, Amina J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Xueqing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Xia, Zhilian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bhatt, Samarth S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Craigen, William |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cheung, Sau Wai |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lewis, Richard A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fang, Ping |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Davenport, Sandra L H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stankiewicz, Pawel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lalani, Seema R |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neurogenetics |
| Related parts | vol. 10 |
| -- | no. 4 |
| -- | p. 363-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s10048-009-0195-z">https://doi.org/10.1007/s10048-009-0195-z</a> |
| Public note | Available from publisher's website |
No items available.