Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children. (Record no. 25532731)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01806 a2200541 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517070156.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201612s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1878-0849 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ejmg.2015.11.013 |
| 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 | Svojgr, Karel |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20161213 |
| 245 00 - TITLE STATEMENT | |
| Title | Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of medical genetics |
| Date of publication, distribution, etc. | Mar 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 152-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Antineoplastic Combined Chemotherapy Protocols |
| General subdivision | therapeutic use |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | BRCA2 Protein |
| General subdivision | genetics |
| 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 | Family |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fanconi Anemia |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Immunophenotyping |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | In Situ Hybridization, Fluorescence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Loss of Heterozygosity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Magnetic Resonance Imaging |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sumerauer, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Puchmajerova, Alena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vicha, Ales |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hrusak, Ondrej |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Michalova, Kyra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Malis, Josef |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smisek, Petr |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kyncl, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Novotna, Drahuse |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Machackova, Eva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jencik, Jan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pycha, Karel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vaculik, Miroslav |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kodet, Roman |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stary, Jan |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of medical genetics |
| Related parts | vol. 59 |
| -- | no. 3 |
| -- | p. 152-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ejmg.2015.11.013">https://doi.org/10.1016/j.ejmg.2015.11.013</a> |
| Public note | Available from publisher's website |
No items available.