Cryptic de novo deletion at 2q23.3-q24.1 in a patient with intellectual disability. (Record no. 26167342)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01423 a2200421 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517102957.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201703s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0973-7731 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s12041-016-0630-5 |
| 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 | Malbin, Jamileh |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170328 |
| 245 00 - TITLE STATEMENT | |
| Title | Cryptic de novo deletion at 2q23.3-q24.1 in a patient with intellectual disability. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of genetics |
| Date of publication, distribution, etc. | Jun 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 441-5 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 | Adult |
| 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 | Chromosomes, Human, Pair 2 |
| 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 | 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 | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nucleic Acid Amplification Techniques |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 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 | physiopathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Speech Intelligibility |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fallah, Mohammad-Sadegh |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sharifi, Zohreh |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shafaei, Mahsa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bagherian, Hamideh |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mostafaei, Tahereh Pour |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aliev, Ramiz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zainal, Sirous |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of genetics |
| Related parts | vol. 95 |
| -- | no. 2 |
| -- | p. 441-5 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s12041-016-0630-5">https://doi.org/10.1007/s12041-016-0630-5</a> |
| Public note | Available from publisher's website |
No items available.