Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. (Record no. 23085609)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02381 a2200769 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516171044.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201505s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1399-0004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/cge.12275 |
| 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 | Chassaing, N |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150525 |
| 245 00 - TITLE STATEMENT | |
| Title | Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Clinical genetics |
| Date of publication, distribution, etc. | Oct 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 326-34 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 | Adolescent |
| 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 | Anophthalmos |
| General subdivision | diagnosis |
| 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 | Eye Proteins |
| General subdivision | genetics |
| 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 | Forkhead Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Heterogeneity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Growth Differentiation Factor 6 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homeodomain Proteins |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microphthalmos |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Otx Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | PAX6 Transcription Factor |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Paired Box Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Repressor Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | SOXB1 Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcription Factors |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Causse, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vigouroux, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delahaye, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alessandri, J-L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boespflug-Tanguy, O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boute-Benejean, O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dollfus, H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Duban-Bedu, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gilbert-Dussardier, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giuliano, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gonzales, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Holder-Espinasse, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Isidor, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jacquemont, M-L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lacombe, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martin-Coignard, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mathieu-Dramard, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Odent, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Picone, O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pinson, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quelin, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sigaudy, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toutain, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thauvin-Robinet, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaplan, Josseline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Calvas, Patrick |
| 773 0# - HOST ITEM ENTRY | |
| Title | Clinical genetics |
| Related parts | vol. 86 |
| -- | no. 4 |
| -- | p. 326-34 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/cge.12275">https://doi.org/10.1111/cge.12275</a> |
| Public note | Available from publisher's website |
No items available.