A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. (Record no. 24864960)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02121 a2200625 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517031350.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201507s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2015.04.002 |
| 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 | Migliavacca, Eugenia |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150729 |
| 245 00 - TITLE STATEMENT | |
| Title | A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | May 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 784-96 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: 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 | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain |
| 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 Development Disorders, Pervasive |
| General subdivision | genetics |
| 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 16 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ciliary Body |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Copy Number Variations |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Expression Regulation |
| 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 | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Potassium Channels, Voltage-Gated |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Schizophrenia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcriptome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zebrafish |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zebrafish Proteins |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Golzio, Christelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Männik, Katrin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blumenthal, Ian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oh, Edwin C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harewood, Louise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kosmicki, Jack A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Loviglio, Maria Nicla |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giannuzzi, Giuliana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hippolyte, Loyse |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maillard, Anne M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alfaiz, Ali Abdullah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Haelst, Mieke M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Andrieux, Joris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gusella, James F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Daly, Mark J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beckmann, Jacques S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jacquemont, Sébastien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Talkowski, Michael E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Katsanis, Nicholas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reymond, Alexandre |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 96 |
| -- | no. 5 |
| -- | p. 784-96 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2015.04.002">https://doi.org/10.1016/j.ajhg.2015.04.002</a> |
| Public note | Available from publisher's website |
No items available.