A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome. (Record no. 24512487)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01014 a2200301 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517011830.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201501s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1661-8769 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1159/000366252 |
| 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 | Huckert, Mathilde |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150108 |
| 245 00 - TITLE STATEMENT | |
| Title | A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular syndromology |
| Date of publication, distribution, etc. | Dec 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 293-8 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mecili, Helen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laugel-Haushalter, Virginie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stoetzel, Corinne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muller, Jean |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Flori, Elisabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laugel, Vincent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Manière, Marie-Cécile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dollfus, Hélène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bloch-Zupan, Agnès |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular syndromology |
| Related parts | vol. 5 |
| -- | no. 6 |
| -- | p. 293-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1159/000366252">https://doi.org/10.1159/000366252</a> |
| Public note | Available from publisher's website |
No items available.