Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus. (Record no. 22095559)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02204 a2200673 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516111655.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201310s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ejhg.2012.206 |
| 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 | Harakalova, Magdalena |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20131017 |
| 245 00 - TITLE STATEMENT | |
| Title | Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | May 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 487-93 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 | Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aortic Aneurysm, Thoracic |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Mapping |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Segregation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ductus Arteriosus, Patent |
| 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 Testing |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 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 | Middle Aged |
| 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 | Mutation, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myosin Heavy Chains |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Netherlands |
| 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 | Polymorphism, Single Nucleotide |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Smagt, Jasper |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Kovel, Carolien G F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van't Slot, Ruben |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poot, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nijman, Isaac J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Medic, Jelena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joziasse, Irene |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deckers, Jaap |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roos-Hesselink, Jolien W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wessels, Marja W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baars, Hubert F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weiss, Marjan M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pals, Gerard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Golmard, Lisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jeunemaitre, Xavier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lindhout, Dick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cuppen, Edwin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baas, Annette F |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 21 |
| -- | no. 5 |
| -- | p. 487-93 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2012.206">https://doi.org/10.1038/ejhg.2012.206</a> |
| Public note | Available from publisher's website |
No items available.