Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology. (Record no. 28903361)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01688 a2200517 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518001834.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201905s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2190-3883 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s13353-018-0472-3 |
| 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 | Lahbib, Saida |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190516 |
| 245 00 - TITLE STATEMENT | |
| Title | Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of applied genetics |
| Date of publication, distribution, etc. | Feb 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 49-56 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 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 | Autism Spectrum Disorder |
| General subdivision | genetics |
| 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 | Chromosomes, Human, Pair 2 |
| General subdivision | genetics |
| 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 | GTPase-Activating Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hearing Loss |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Intellectual Disability |
| General subdivision | genetics |
| 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leblond, Claire S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamza, Mariem |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Regnault, Béatrice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lemée, Laure |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mathieu, Alexandre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jaouadi, Hager |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mkaouar, Rahma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Youssef-Turki, Ilhem Ben |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Belhadj, Ahlem |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kraoua, Ichraf |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bourgeron, Thomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abdelhak, Sonia |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of applied genetics |
| Related parts | vol. 60 |
| -- | no. 1 |
| -- | p. 49-56 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s13353-018-0472-3">https://doi.org/10.1007/s13353-018-0472-3</a> |
| Public note | Available from publisher's website |
No items available.