De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation. (Record no. 20551831)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01847 a2200565 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516022335.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201105s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1552-4833 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajmg.a.33820 |
| 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 | Schramm, Charlotte |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20110520 |
| 245 00 - TITLE STATEMENT | |
| Title | De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Feb 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 445-9 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Anorectal Malformations |
| 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 | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Duplication |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 18 |
| 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 | Genotype |
| 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 |
| 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 |
| General subdivision | genetics |
| 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 | Polymorphism, Single Nucleotide |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Draaken, Markus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bartels, Enrika |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boemers, Thomas 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 | Baudisch, Friederike |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Priebe, Lutz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoffmann, Per |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zink, Alexander M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Engels, Hartmut |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brockschmidt, Felix F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aretz, Stefan |
| 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 |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 155A |
| -- | no. 2 |
| -- | p. 445-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.33820">https://doi.org/10.1002/ajmg.a.33820</a> |
| Public note | Available from publisher's website |
No items available.