Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. (Record no. 15037489)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02138 a2200661 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514200531.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200505s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1018-4813 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/sj.ejhg.5201260 |
| 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 | Teber, Ozge Altug |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20050511 |
| 245 00 - TITLE STATEMENT | |
| Title | Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | Nov 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 879-90 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 | Chromosome Mapping |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| General subdivision | methods |
| 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 Variation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mandibulofacial Dysostosis |
| General subdivision | diagnosis |
| 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 | Nuclear Proteins |
| General subdivision | genetics |
| 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 | Phosphoproteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gillessen-Kaesbach, Gabriele |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fischer, Sven |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Böhringer, Stefan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Albrecht, Beate |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Albert, Angelika |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arslan-Kirchner, Mine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haan, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hagedorn-Greiwe, Monika |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hammans, Christof |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Henn, Wolfram |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hinkel, Georg Klaus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | König, Rainer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kunstmann, Erdmute |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kunze, Jürgen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Neumann, Luitgard M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prott, Eva-Christina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rauch, Anita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rott, Hans-Dieter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seidel, Heide |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spranger, Stephanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sprengel, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zoll, Barbara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lohmann, Dietmar R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wieczorek, Dagmar |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 12 |
| -- | no. 11 |
| -- | p. 879-90 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/sj.ejhg.5201260">https://doi.org/10.1038/sj.ejhg.5201260</a> |
| Public note | Available from publisher's website |
No items available.