Mosaic Turner syndrome shows reduced penetrance in an adult population study. (Record no. 28802469)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01829 a2200553 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517234921.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201906s 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/s41436-018-0271-6 |
| 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 | Tuke, Marcus A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190618 |
| 245 00 - TITLE STATEMENT | |
| Title | Mosaic Turner syndrome shows reduced penetrance in an adult population study. |
| 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. | 04 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 877-886 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 | 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 | Aneuploidy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, X |
| 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 | Genetics, Population |
| 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 | Karyotype |
| 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 | Mosaicism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Penetrance |
| 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 | Trisomy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Turner Syndrome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | United Kingdom |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ruth, Katherine S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wood, Andrew R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beaumont, Robin N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tyrrell, Jessica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jones, Samuel E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yaghootkar, Hanieh |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Turner, Claire L S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Donohoe, Mollie E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brooke, Antonia M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Collinson, Morag N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Freathy, Rachel M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weedon, Michael N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Frayling, Timothy M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Murray, Anna |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetics in medicine : official journal of the American College of Medical Genetics |
| Related parts | vol. 21 |
| -- | no. 4 |
| -- | p. 877-886 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/s41436-018-0271-6">https://doi.org/10.1038/s41436-018-0271-6</a> |
| Public note | Available from publisher's website |
No items available.