Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. (Record no. 26652380)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01880 a2200589 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517125644.0 |
| 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 | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ejhg.2016.165 |
| 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 | Kuechler, Alma |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170705 |
| 245 00 - TITLE STATEMENT | |
| Title | Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | 02 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 183-191 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Developmental Disabilities |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Failure to Thrive |
| General subdivision | diagnosis |
| 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 | 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 | Male |
| 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 | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcription Factors |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Czeschik, Johanna Christina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Graf, Elisabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grasshoff, Ute |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hüffmeier, Ulrike |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Busa, Tiffany |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beck-Woedl, Stefanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rivière, Jean-Baptiste |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bader, Ingrid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koch, Johannes |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reis, André |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hehr, Ute |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rittinger, Olaf |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sperl, Wolfgang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haack, Tobias B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wieland, Thomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Engels, Hartmut |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prokisch, Holger |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Strom, Tim M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lüdecke, Hermann-Josef |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wieczorek, Dagmar |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 25 |
| -- | no. 2 |
| -- | p. 183-191 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2016.165">https://doi.org/10.1038/ejhg.2016.165</a> |
| Public note | Available from publisher's website |
No items available.