Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis. (Record no. 24268760)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02067 a2200673 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516235833.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201509s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1460-2083 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/hmg/ddu523 |
| 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 | Ramos-Brossier, Mariana |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150922 |
| 245 00 - TITLE STATEMENT | |
| Title | Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human molecular genetics |
| Date of publication, distribution, etc. | Feb 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1106-18 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 | Adult |
| 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 | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 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 | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Interleukin-1 Receptor Accessory Protein |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Introns |
| 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 | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurogenesis |
| General subdivision | genetics |
| 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 | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Interaction Domains and Motifs |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Transport |
| 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 | Signal Transduction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Synapses |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Montani, Caterina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lebrun, Nicolas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gritti, Laura |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martin, Christelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seminatore-Nole, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toussaint, Aurelie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moreno, Sarah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poirier, Karine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dorseuil, Olivier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chelly, Jamel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hackett, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gecz, Jozef |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bieth, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faudet, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heron, Delphine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Frank Kooy, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Loeys, Bart |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Humeau, Yann |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sala, Carlo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Billuart, Pierre |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human molecular genetics |
| Related parts | vol. 24 |
| -- | no. 4 |
| -- | p. 1106-18 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/ddu523">https://doi.org/10.1093/hmg/ddu523</a> |
| Public note | Available from publisher's website |
No items available.