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Title:Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
Authors:ID Elkhateeb, Nour (Author)
ID Crookes, Renarta (Author)
ID Spiller, Michael (Author)
ID Pavinato, Lisa (Author)
ID Palermo, Flavia (Author)
ID Brusco, Alfredo (Author)
ID Parker, Michael (Author)
ID Park, Soo-Mi (Author)
ID Višnjar, Tanja (Author)
ID Writzl, Karin (Author), et al.
Files:.pdf PDF - Presentation file, download (2,61 MB)
MD5: 26DEE727BDCB21137DF420EEF874AB36
 
URL URL - Source URL, visit https://www.sciencedirect.com/science/article/pii/S109836002400282X?via%3Dihub
 
Language:English
Typology:1.01 - Original Scientific Article
Organization:Logo UKC LJ - Ljubljana University Medical Centre
Keywords:MAP3K enzymes, neurodevelopmental disorder, TAOK1, TAOK2, Thousand and one kinase family
Publication status:Published
Publication version:Version of Record
Year of publishing:2025
Number of pages:str. 1-17
Numbering:Vol. 27, iss. 3, [article no.] 101348
PID:20.500.12556/DiRROS-27832 New window
UDC:575:61
ISSN on article:1530-0366
DOI:10.1016/j.gim.2024.101348 New window
COBISS.SI-ID:226622467 New window
Note:Nasl. z nasl. zaslona; Opis z dne 19. 2. 2025;
Publication date in DiRROS:26.02.2026
Views:153
Downloads:49
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Record is a part of a journal

Title:Genetics in medicine
Shortened title:Genet. med.
Publisher:Lippincott Williams & Wilkins, Nature Publishing Group
ISSN:1530-0366
COBISS.SI-ID:521566489 New window

Document is financed by a project

Funder:UKRI - UK Research and Innovation
Project number:MR/V037307/1
Name:Unravelling the role of NBAS in skeletal development: towards treatment for NBAS-related human phenotype

Funder:WT - Wellcome Trust
Project number:098051
Name:Wellcome Trust Sanger Institute - generic account for deposition of all core- funded research papers

Funder:WT - Wellcome Trust
Project number:223718
Name:DECIPHER

Funder:Other - Other funder or multiple funders

Licences

License:CC BY 4.0, Creative Commons Attribution 4.0 International
Link:http://creativecommons.org/licenses/by/4.0/
Description:This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

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