Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients. (Record no. 28101627)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02810 a2200901 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517202246.0 |
| 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-2017-104939 |
| 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 | Lefebvre, Mathilde |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190916 |
| 245 00 - TITLE STATEMENT | |
| Title | Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Jun 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 422-429 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: 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 | Basic Helix-Loop-Helix Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Bone Diseases, Developmental |
| General subdivision | genetics |
| 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycosyltransferases |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intracellular Signaling Peptides and Proteins |
| General subdivision | genetics |
| 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 | genetics |
| 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 | Pedigree |
| 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 | Spine |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | T-Box Domain Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dieux-Coeslier, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baujat, Geneviève |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schaefer, Elise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Judith, Saint-Onge |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bazin, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pinson, Lucile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Attie-Bitach, Tania |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baumann, Clarisse |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fradin, Melanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pierquin, Genevieve |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Julia, Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quélin, Chloé |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Doray, Bérénice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Berg, Sylvie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vincent-Delorme, Catherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lambert, Laetitia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bachmann, Nadine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lacombe, Didier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Isidor, Bertrand |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laurent, Nicole |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joelle, Roume |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blanchet, Patricia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Odent, Sylvie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kervran, Dominique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leporrier, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abel, Carine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Segers, Karine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guiliano, Fabienne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ginglinger-Fabre, Emmanuelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Selicorni, Angelo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goldenberg, Alice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El Chehadeh, Salima |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Francannet, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Demeer, Benedicte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Duffourd, Yannis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thauvin-Robinet, Christel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verloes, Alain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cormier-Daire, Valerie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riviere, Jean Baptiste |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thevenon, Julien |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 55 |
| -- | no. 6 |
| -- | p. 422-429 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2017-104939">https://doi.org/10.1136/jmedgenet-2017-104939</a> |
| Public note | Available from publisher's website |
No items available.