Associated Papers
NUAK2 Pathogenic Variants Are Definitively Associated with Neural Tube Defects in Humans: New Genotype-Phenotype Correlation and Review of the Literature.
Mastromoro G et al.
Diagnostics (basel, Switzerland), 2025
Functional Evaluation of Neural Tube Defect-Related Missense Mutations Using In Silico Methods.
Biterge Sut B
Birth Defects Research, 2025
The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement.
Munch TN et al.
Brain Communications, 2023
36694575 (PubMed )
Supplement: fcad004_supplementary_data.docx
Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.
Barrell WB et al.
European Journal of Human Genetics : Ejhg, 2022
Dynamics of genomic and immune responses during primary immunotherapy resistance in mismatch repair-deficient tumors.
Takahashi N et al.
Cold Spring Harbor Molecular Case Studies, 2020
33028646 (PubMed )
Supplement: supp_mcs.a005678_Supplemental_Tables_.xlsx › Supplementary_Table_S2
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