Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. (Record no. 26607490)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02075 a2200697 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517124313.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201707s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1432-1203 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00439-016-1743-x |
| 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 | Bramswig, Nuria C |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170726 |
| 245 00 - TITLE STATEMENT | |
| Title | Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human genetics |
| Date of publication, distribution, etc. | 02 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 179-192 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; 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 | Autistic Disorder |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| General subdivision | genetics |
| 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 | 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 | Genetic Variation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genome, Human |
| 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 | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Karyotyping |
| 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 | Mutation, Missense |
| 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 | Proteolysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splicing |
| 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 | Ubiquitin-Protein Ligases |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lüdecke, H-J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pettersson, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Albrecht, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bernier, R A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cremer, K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Eichler, E E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Falkenstein, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gerdts, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jansen, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kuechler, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kvarnung, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lindstrand, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nilsson, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nordgren, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pfundt, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spruijt, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Surowy, H M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Vries, B B A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wieland, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Engels, H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Strom, T M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kleefstra, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wieczorek, D |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human genetics |
| Related parts | vol. 136 |
| -- | no. 2 |
| -- | p. 179-192 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s00439-016-1743-x">https://doi.org/10.1007/s00439-016-1743-x</a> |
| Public note | Available from publisher's website |
No items available.