Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers. (Record no. 30371045)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01659 a2200481 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518072649.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202006s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1872-8464 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ijporl.2019.109790 |
| 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 | Giannantonio, Sara |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200604 |
| 245 00 - TITLE STATEMENT | |
| Title | Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | International journal of pediatric otorhinolaryngology |
| Date of publication, distribution, etc. | Feb 2020 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 109790 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Deafness |
| 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 | Genetic Diseases, X-Linked |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hearing Loss, Conductive |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hearing Loss, Sensorineural |
| 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 | Italy |
| 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 | Models, Molecular |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | POU Domain Factors |
| General subdivision | chemistry |
| 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 | Protein Folding |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Siblings |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Agolini, Emanuele |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scorpecci, Alessandro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anzivino, Roberta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bellacchio, Emanuele |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cocciadiferro, Dario |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Novelli, Antonio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Digilio, Maria Cristina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marsella, Pasquale |
| 773 0# - HOST ITEM ENTRY | |
| Title | International journal of pediatric otorhinolaryngology |
| Related parts | vol. 129 |
| -- | p. 109790 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ijporl.2019.109790">https://doi.org/10.1016/j.ijporl.2019.109790</a> |
| Public note | Available from publisher's website |
No items available.