Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. (Record no. 30672349)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02580 a2200841 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518085757.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202008s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1097-4199 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.neuron.2020.01.027 |
| 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 | Tsai, Meng-Han |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200811 |
| 245 00 - TITLE STATEMENT | |
| Title | Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neuron |
| Date of publication, distribution, etc. | 04 2020 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 237-245.e8 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 | Adolescent |
| 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 | Age of Onset |
| 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 | Centrosome |
| General subdivision | pathology |
| 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 | Chromosome Aberrations |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Classical Lissencephalies and Subcortical Band Heterotopias |
| General subdivision | diagnostic imaging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytoskeletal Proteins |
| 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 | Gene Knockdown Techniques |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Variation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 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 | 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 | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oncogene Proteins, Fusion |
| 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 | Seizures |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muir, Alison M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Won-Jing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kang, Yi-Ning |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yang, Kun-Chuan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chao, Nian-Hsin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wu, Mei-Feng |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chang, Ying-Chao |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Porter, Brenda E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jansen, Laura A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sebire, Guillaume |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deconinck, Nicolas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fan, Wen-Lang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Su, Shih-Chi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chung, Wen-Hung |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Almanza Fuerte, Edith P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mehaffey, Michele G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ng, Ching-Ching |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chan, Chung-Kin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lim, Kheng-Seang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leventer, Richard J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lockhart, Paul J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riney, Kate |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Damiano, John A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hildebrand, Michael S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mirzaa, Ghayda M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dobyns, William B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Berkovic, Samuel F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scheffer, Ingrid E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tsai, Jin-Wu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mefford, Heather C |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neuron |
| Related parts | vol. 106 |
| -- | no. 2 |
| -- | p. 237-245.e8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.neuron.2020.01.027">https://doi.org/10.1016/j.neuron.2020.01.027</a> |
| Public note | Available from publisher's website |
No items available.