Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs. (Record no. 30101975)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01805 a2200421 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518060923.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202106s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-4954 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1080/14767058.2019.1657084 |
| 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 | Houdayer, Clara |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20210617 |
| 245 00 - TITLE STATEMENT | |
| Title | Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians |
| Date of publication, distribution, etc. | Jul 2021 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2217-2220 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 | Craniofacial Abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dwarfism |
| 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 | Joint Instability |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ossification, Heterotopic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polydactyly |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pregnancy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prenatal Diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ziegler, Alban |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boussion, Françoise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blesson, Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bris, Céline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toutain, Annick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Biquard, Florence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guichet, Agnès |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonneau, Dominique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Colin, Estelle |
| 773 0# - HOST ITEM ENTRY | |
| Title | The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians |
| Related parts | vol. 34 |
| -- | no. 13 |
| -- | p. 2217-2220 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1080/14767058.2019.1657084">https://doi.org/10.1080/14767058.2019.1657084</a> |
| Public note | Available from publisher's website |
No items available.