Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? (Record no. 29369418)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02130 a2200625 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518023250.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202002s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1530-0366 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/s41436-019-0443-z |
| 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 | Wooderchak-Donahue, Whitney L |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200204 |
| 245 00 - TITLE STATEMENT | |
| Title | Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Genetics in medicine : official journal of the American College of Medical Genetics |
| Date of publication, distribution, etc. | 09 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2007-2014 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 | Activin Receptors, Type II |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Capillaries |
| General subdivision | abnormalities |
| 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 | Endoglin |
| 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 |
| 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 | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptor, EphB4 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Smad4 Protein |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Telangiectasia, Hereditary Hemorrhagic |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Vascular Malformations |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Akay, Gulsen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Whitehead, Kevin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Briggs, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stevenson, David A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | O'Fallon, Brendan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Velinder, Matthew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Farrell, Andrew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shen, Wei |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bedoukian, Emma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Skrabann, Cara M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Antaya, Richard J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Henderson, Kate |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pollak, Jeffrey |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Treat, James |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Day, Ronald |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jacher, Joseph E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hannibal, Mark |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bontempo, Kelly |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marth, Gabor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bayrak-Toydemir, Pinar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McDonald, Jamie |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetics in medicine : official journal of the American College of Medical Genetics |
| Related parts | vol. 21 |
| -- | no. 9 |
| -- | p. 2007-2014 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/s41436-019-0443-z">https://doi.org/10.1038/s41436-019-0443-z</a> |
| Public note | Available from publisher's website |
No items available.