Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1. (Record no. 27962953)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01465 a2200445 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517193937.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201903s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2472-1727 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/bdr2.1191 |
| 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 | Bacrot, Séverine |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190318 |
| 245 00 - TITLE STATEMENT | |
| Title | Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Birth defects research |
| Date of publication, distribution, etc. | 04 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 538-542 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Diagnosis, Differential |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fetus |
| General subdivision | pathology |
| 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 | Olivopontocerebellar Atrophies |
| General subdivision | diagnosis |
| 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 | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mechler, Charlotte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Talhi, Naima |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martin-Coignard, Dominique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roth, Philippe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Michot, Caroline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ichkou, Amale |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alibeu, Olivier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nitschke, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thomas, Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vekemans, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Razavi, Férechté |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boutaud, Lucile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Attie-Bitach, Tania |
| 773 0# - HOST ITEM ENTRY | |
| Title | Birth defects research |
| Related parts | vol. 110 |
| -- | no. 6 |
| -- | p. 538-542 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/bdr2.1191">https://doi.org/10.1002/bdr2.1191</a> |
| Public note | Available from publisher's website |
No items available.