Confirmation of mutations in (Record no. 27063180)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01819 a2200613 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517150201.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201807s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmedgenet-2017-104521 |
| 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 | Plecko, Barbara |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180703 |
| 245 00 - TITLE STATEMENT | |
| Title | Confirmation of mutations in |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | 12 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 809-814 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alleles |
| 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electroencephalography |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsy |
| General subdivision | diagnosis |
| 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 Frequency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Association Studies |
| 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 | 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 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 | Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pyridoxine |
| General subdivision | therapeutic use |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Vitamin B 6 |
| General subdivision | blood |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zweier, Markus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Begemann, Anaïs |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mathis, Deborah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schmitt, Bernhard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Striano, Pasquale |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baethmann, Martina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vari, Maria Stella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beccaria, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zara, Federico |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crowther, Lisa M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joset, Pascal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sticht, Heinrich |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Papuc, Sorina Mihaela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rauch, Anita |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 54 |
| -- | no. 12 |
| -- | p. 809-814 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2017-104521">https://doi.org/10.1136/jmedgenet-2017-104521</a> |
| Public note | Available from publisher's website |
No items available.