Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. (Record no. 25033360)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01880 a2200589 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517041018.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201605s 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/ddv250 |
| 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 | Oegema, Renske |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160531 |
| 245 00 - TITLE STATEMENT | |
| Title | Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human molecular genetics |
| Date of publication, distribution, etc. | Sep 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 5313-25 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 | Alleles |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Line |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cerebellar Vermis |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cerebellum |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cohort Studies |
| 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 | Genotype |
| 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 | Magnetic Resonance Imaging |
| 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 | Microtubules |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Models, Molecular |
| 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 | Nervous System Malformations |
| General subdivision | diagnosis |
| 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 | Protein Conformation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Multimerization |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Structure-Activity Relationship |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tubulin |
| General subdivision | chemistry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cushion, Thomas D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Phelps, Ian G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chung, Seo-Kyung |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dempsey, Jennifer C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Collins, Sarah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mullins, Jonathan G L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dudding, Tracy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gill, Harinder |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Green, Andrew J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dobyns, William B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ishak, Gisele E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rees, Mark I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Doherty, Dan |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human molecular genetics |
| Related parts | vol. 24 |
| -- | no. 18 |
| -- | p. 5313-25 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/ddv250">https://doi.org/10.1093/hmg/ddv250</a> |
| Public note | Available from publisher's website |
No items available.