Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions. (Record no. 22756972)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02003 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516151421.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201401s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1750-1172 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1186/1750-1172-8-75 |
| 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 | Ferraris, Alessandro |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140102 |
| 245 00 - TITLE STATEMENT | |
| Title | Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Orphanet journal of rare diseases |
| Date of publication, distribution, etc. | May 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 75 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 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 | 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 | Chromosome Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 3 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dandy-Walker Syndrome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Face |
| General subdivision | abnormalities |
| 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 Association Studies |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Wisconsin |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zinc Fingers |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bernardini, Laura |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sabolic Avramovska, Vesna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zanni, Ginevra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Loddo, Sara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sukarova-Angelovska, Elena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Parisi, Valentina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Capalbo, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tumini, Stefano |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Travaglini, Lorena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mancini, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Duma, Filip |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barresi, Sabina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Novelli, Antonio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mercuri, Eugenio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tarani, Luigi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bertini, Enrico |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dallapiccola, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Valente, Enza Maria |
| 773 0# - HOST ITEM ENTRY | |
| Title | Orphanet journal of rare diseases |
| Related parts | vol. 8 |
| -- | p. 75 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/1750-1172-8-75">https://doi.org/10.1186/1750-1172-8-75</a> |
| Public note | Available from publisher's website |
No items available.