Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.
Wang T et al.
Computational and Structural Biotechnology Journal, 2023
38213898 (PubMed )
Supplement: mmc2.xlsx › RIVs_in_VARGs
STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity.
Nagtzaam IF et al.
The British Journal of Dermatology, 2022
Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis.
Mazereeuw-Hautier J et al.
Acta Dermato-venereologica, 2020
Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters.
Seidl-Philipp M et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2019
Gestörte Hautbarriere bei zwei österreichischen Schwestern mit autosomal-rezessiver kongenitaler Ichthyose (ARCI) verursacht durch eine Missense-Mutation in SDR9C7.
Seidl-Philipp M et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2019
Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis.
Hotz A et al.
The British Journal of Dermatology, 2018
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