Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations. (Record no. 24879376)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01730 a2200553 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517031854.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201604s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.22809 |
| 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 | Martinelli, Simone |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160427 |
| 245 00 - TITLE STATEMENT | |
| Title | Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Aug 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 787-96 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 | Child, Preschool |
| 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 | Genetic Variation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Germ-Line Mutation |
| 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 | Noonan Syndrome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proto-Oncogene Mas |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proto-Oncogene Proteins c-cbl |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stellacci, Emilia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pannone, Luca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | D'Agostino, Daniela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Consoli, Federica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lissewski, Christina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Silvano, Marianna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cencelli, Giulia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lepri, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maitz, Silvia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pauli, Silke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rauch, Anita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zampino, Giuseppe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Selicorni, Angelo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Melançon, Serge |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Digilio, Maria C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gelb, Bruce D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Luca, Alessandro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dallapiccola, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zenker, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tartaglia, Marco |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 36 |
| -- | no. 8 |
| -- | p. 787-96 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.22809">https://doi.org/10.1002/humu.22809</a> |
| Public note | Available from publisher's website |
No items available.