Contribution of de novo and mosaic (Record no. 27722485)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02224 a2200697 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517182436.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201909s 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-2017-104976 |
| 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 | Renaux-Petel, Mariette |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190920 |
| 245 00 - TITLE STATEMENT | |
| Title | Contribution of de novo and mosaic |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | 03 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 173-180 p. |
| Other physical details | digital |
| 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 | Adrenocortical Carcinoma |
| General subdivision | blood |
| 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 | Breast Neoplasms |
| General subdivision | blood |
| 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 | Choroid Plexus Neoplasms |
| General subdivision | blood |
| 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 | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Germ-Line Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | High-Throughput Nucleotide Sequencing |
| 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 | Li-Fraumeni Syndrome |
| General subdivision | blood |
| 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mosaicism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tumor Suppressor Protein p53 |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Charbonnier, Françoise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Théry, Jean-Christophe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fermey, Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lienard, Gwendoline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bou, Jacqueline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coutant, Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vezain, Myriam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kasper, Edwige |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fourneaux, Steeve |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Manase, Sandrine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blanluet, Maud |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leheup, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mansuy, Ludovic |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Champigneulle, Jacqueline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chappé, Céline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Longy, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sévenet, Nicolas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Paillerets, Brigitte Bressac-de |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guerrini-Rousseau, Léa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brugières, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caron, Olivier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sabourin, Jean-Christophe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tournier, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baert-Desurmont, Stéphanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Frébourg, Thierry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bougeard, Gaëlle |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 55 |
| -- | no. 3 |
| -- | p. 173-180 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2017-104976">https://doi.org/10.1136/jmedgenet-2017-104976</a> |
| Public note | Available from publisher's website |
No items available.