Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation. (Record no. 23867813)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02141 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516214334.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201507s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1878-0849 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ejmg.2014.05.006 |
| 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 | Baquero-Montoya, Carolina |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150706 |
| 245 00 - TITLE STATEMENT | |
| Title | Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of medical genetics |
| Date of publication, distribution, etc. | Sep 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 503-9 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 | Alleles |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Cycle Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Comparative Genomic Hybridization |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | De Lange Syndrome |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Order |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | High-Throughput Nucleotide Sequencing |
| 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 | Models, Molecular |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Musculoskeletal Abnormalities |
| General subdivision | genetics |
| 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 | 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 | Protein Conformation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proteins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Alignment |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gil-Rodríguez, María-Concepción |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hernández-Marcos, María |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Teresa-Rodrigo, María-Esperanza |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vicente-Gabas, Alicia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bernal, María-Luisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Casale, Cesar-Horacio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bueno-Lozano, Gloria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bueno-Martínez, Inés |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Queralt, Ethel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Villa, Olaya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hernando-Davalillo, Cristina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Armengol, Lluís |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gómez-Puertas, Paulino |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Puisac, Beatriz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Selicorni, Angelo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ramos, Feliciano J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pié, Juan |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of medical genetics |
| Related parts | vol. 57 |
| -- | no. 9 |
| -- | p. 503-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ejmg.2014.05.006">https://doi.org/10.1016/j.ejmg.2014.05.006</a> |
| Public note | Available from publisher's website |
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