Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. (Record no. 27480868)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02396 a2200757 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517171035.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201710s 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.2017.07.010 |
| 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 | Ivanova, Ekaterina L |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20171027 |
| 245 00 - TITLE STATEMENT | |
| Title | Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Sep 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 428-440 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 | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cerebellar Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cerebellum |
| General subdivision | abnormalities |
| 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 | Developmental Disabilities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Embryo, Mammalian |
| General subdivision | metabolism |
| 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 | 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 | 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 | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microcephaly |
| General subdivision | genetics |
| 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 | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neuroblastoma |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neuronal Outgrowth |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurons |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mau-Them, Frédéric Tran |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riazuddin, Saima |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kahrizi, Kimia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laugel, Vincent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schaefer, Elise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Saint Martin, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Runge, Karen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Iqbal, Zafar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spitz, Marie-Aude |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laura, Mary |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Drouot, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gérard, Bénédicte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deleuze, Jean-François |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Brouwer, Arjan P M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Razzaq, Attia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dollfus, Hélène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Assir, Muhammad Zaman |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nitchké, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hinckelmann, Maria-Victoria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ropers, Hilger |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riazuddin, Sheikh |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Najmabadi, Hossein |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Bokhoven, Hans |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chelly, Jamel |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 101 |
| -- | no. 3 |
| -- | p. 428-440 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2017.07.010">https://doi.org/10.1016/j.ajhg.2017.07.010</a> |
| Public note | Available from publisher's website |
No items available.