De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders. (Record no. 30888136)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01660 a2200505 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518100317.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202105s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2373-2873 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1101/mcs.a004721 |
| 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 | Sjaarda, Calvin P |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20210528 |
| 245 00 - TITLE STATEMENT | |
| Title | De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Cold Spring Harbor molecular case studies |
| Date of publication, distribution, etc. | 06 2020 |
| 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 | Chromosomes, Human, Pair 19 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Comparative Genomic Hybridization |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Copy Number Variations |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Facies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family |
| 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 | Gene Dosage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Duplication |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Expression Profiling |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Essential |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Association Studies |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurodevelopmental Disorders |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 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 | RNA, Messenger |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Siblings |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaiser, Beatrice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McNaughton, Amy J M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hudson, Melissa L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harris-Lowe, Liam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lou, Kyle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guerin, Andrea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ayub, Muhammad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Liu, Xudong |
| 773 0# - HOST ITEM ENTRY | |
| Title | Cold Spring Harbor molecular case studies |
| Related parts | vol. 6 |
| -- | no. 3 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1101/mcs.a004721">https://doi.org/10.1101/mcs.a004721</a> |
| Public note | Available from publisher's website |
No items available.