De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. (Record no. 22634166)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02296 a2200685 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516143043.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201408s 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.2013.58 |
| 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 | Hilger, Alina |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140804 |
| 245 00 - TITLE STATEMENT | |
| Title | De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | Dec 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1377-82 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 | Abnormalities, Multiple |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Anal Canal |
| General subdivision | abnormalities |
| 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 | Anus, Imperforate |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Copy Number Variations |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Esophagus |
| General subdivision | abnormalities |
| 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 | Heart Defects, Congenital |
| 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 | Karyotyping |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Kidney |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Limb Deformities, Congenital |
| 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 | Radius |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, G-Protein-Coupled |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spine |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Trachea |
| General subdivision | abnormalities |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schramm, Charlotte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pennimpede, Tracie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wittler, Lars |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dworschak, Gabriel C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bartels, Enrika |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Engels, Hartmut |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zink, Alexander M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Degenhardt, Franziska |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Müller, Annette M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schmiedeke, Eberhard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grasshoff-Derr, Sabine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Märzheuser, Stefanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hosie, Stuart |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Holland-Cunz, Stefan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wijers, Charlotte H W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marcelis, Carlo L M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Rooij, Iris A L M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hildebrandt, Friedhelm |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Herrmann, Bernhard G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nöthen, Markus M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ludwig, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reutter, Heiko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Draaken, Markus |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 21 |
| -- | no. 12 |
| -- | p. 1377-82 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2013.58">https://doi.org/10.1038/ejhg.2013.58</a> |
| Public note | Available from publisher's website |
No items available.