17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report. (Record no. 27722130)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01627 a2200457 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517182430.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201711s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1471-2350 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1186/s12881-017-0479-3 |
| 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 | Wessel, Karen |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20171102 |
| 245 00 - TITLE STATEMENT | |
| Title | 17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | BMC medical genetics |
| Date of publication, distribution, etc. | 10 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 119 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 | Ataxia |
| General subdivision | diagnosis |
| 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 | Chromosome Duplication |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 17 |
| General subdivision | chemistry |
| 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 | Electroencephalography |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Dosage |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Learning Disabilities |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Psychomotor Disorders |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Seizures |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Self-Injurious Behavior |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Speech Disorders |
| General subdivision | diagnosis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Suleiman, Jehan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Khalaf, Tamam E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kishore, Shivendra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rolfs, Arndt |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El-Hattab, Ayman W |
| 773 0# - HOST ITEM ENTRY | |
| Title | BMC medical genetics |
| Related parts | vol. 18 |
| -- | no. 1 |
| -- | p. 119 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/s12881-017-0479-3">https://doi.org/10.1186/s12881-017-0479-3</a> |
| Public note | Available from publisher's website |
No items available.