Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. (Record no. 26664406)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01686 a2200541 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517130044.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201702s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1878-0849 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ejmg.2016.11.008 |
| 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 | Kharbanda, Mira |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170210 |
| 245 00 - TITLE STATEMENT | |
| Title | Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of medical genetics |
| Date of publication, distribution, etc. | Feb 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 130-135 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 | 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 | Developmental Disabilities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 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 | Haploinsufficiency |
| General subdivision | genetics |
| 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 | 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | beta Catenin |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pilz, Daniela T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tomkins, Susan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chandler, Kate |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saggar, Anand |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fryer, Alan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McKay, Victoria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Louro, Pedro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smith, Jill Clayton |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burn, John |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kini, Usha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Burca, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | FitzPatrick, David R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kinning, Esther |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of medical genetics |
| Related parts | vol. 60 |
| -- | no. 2 |
| -- | p. 130-135 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ejmg.2016.11.008">https://doi.org/10.1016/j.ejmg.2016.11.008</a> |
| Public note | Available from publisher's website |
No items available.