Associated Papers
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement
A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4.
Strang-Karlsson S et al.
American Journal of Medical Genetics. Part A, 2021
A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom.
Zhou YK et al.
Bmc Medical Genetics, 2018
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
Yu H et al.
The Journal of Allergy and Clinical Immunology, 2016
Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.
Heller ER et al.
The Journal of Investigative Dermatology, 2015
TTDA: big impact of a small protein.
Theil AF et al.
Experimental Cell Research, 2014
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