TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. (Record no. 28865144)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02535 a2200781 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518000737.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201907s 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/s41436-018-0137-y |
| 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 | Dines, Jennifer N |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190715 |
| 245 00 - TITLE STATEMENT | |
| Title | TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. |
| 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. | 03 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 601-607 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S. |
| 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 | Aryl Hydrocarbon Receptor Nuclear Translocator |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain Diseases |
| General subdivision | genetics |
| 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Copy Number Variations |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Developmental Disabilities |
| General subdivision | genetics |
| 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 | Family |
| 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 | Genotype |
| 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 | Intellectual Disability |
| General subdivision | genetics |
| 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 | 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 | Seizures |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| General subdivision | methods |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Golden-Grant, Katie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | LaCroix, Amy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muir, Alison M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cintrón, Dianne Laboy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McWalter, Kirsty |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cho, Megan T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sun, Angela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Merritt, J Lawrence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thies, Jenny |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Niyazov, Dmitriy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burton, Barbara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kim, Katherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fleming, Leah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Westman, Rachel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Karachunski, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dalton, Joline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Basinger, Alice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ficicioglu, Can |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Helbig, Ingo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pendziwiat, Manuela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muhle, Hiltrud |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Helbig, Katherine L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caliebe, Almuth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Santer, René |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Becker, Kolja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Suchy, Sharon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Douglas, Ganka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Millan, Francisca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Begtrup, Amber |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Monaghan, Kristin G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mefford, Heather C |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetics in medicine : official journal of the American College of Medical Genetics |
| Related parts | vol. 21 |
| -- | no. 3 |
| -- | p. 601-607 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/s41436-018-0137-y">https://doi.org/10.1038/s41436-018-0137-y</a> |
| Public note | Available from publisher's website |
No items available.