Molecular studies of the CHD7 gene: an obligatory diagnostic step in an expanding range of clinical phenotypes. (Record no. 22354727)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01027 a2200277 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516125034.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201305s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1744-8352 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1586/erm.12.120 |
| 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 | Hoefsloot, Lies H |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130530 |
| 245 00 - TITLE STATEMENT | |
| Title | Molecular studies of the CHD7 gene: an obligatory diagnostic step in an expanding range of clinical phenotypes. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Expert review of molecular diagnostics |
| Date of publication, distribution, etc. | Nov 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 795-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Editorial |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | CHARGE Syndrome |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Helicases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA-Binding Proteins |
| 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 | Phenotype |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Corsten-Janssen, Nicole |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Ravenswaaij-Arts, Conny M A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Expert review of molecular diagnostics |
| Related parts | vol. 12 |
| -- | no. 8 |
| -- | p. 795-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1586/erm.12.120">https://doi.org/10.1586/erm.12.120</a> |
| Public note | Available from publisher's website |
No items available.