Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome. (Record no. 24026666)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01743 a2200505 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516223702.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201506s 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.36679 |
| 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 | Watson, Christopher M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150604 |
| 245 00 - TITLE STATEMENT | |
| Title | Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Oct 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2649-55 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 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 | DNA Copy Number Variations |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 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 | 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 | Membrane Proteins |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Diagnostic Techniques |
| General subdivision | methods |
| 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 | Nerve Tissue Proteins |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nucleotides |
| General subdivision | genetics |
| 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 | Sequence Analysis, DNA |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crinnion, Laura A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tzika, Antigoni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mills, Alison |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coates, Andrea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pendlebury, Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hewitt, Sarah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harrison, Sally M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Daly, Catherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roberts, Paul |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carr, Ian M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sheridan, Eamonn G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonthron, David T |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 164A |
| -- | no. 10 |
| -- | p. 2649-55 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.36679">https://doi.org/10.1002/ajmg.a.36679</a> |
| Public note | Available from publisher's website |
No items available.