Associated Papers
Genetic Findings in Short Turkish Children Born to Consanguineous Parents.
Joustra SD et al.
Hormone Research in Paediatrics, 2025
38838658 (PubMed )
Supplement: Supplementary_material-Suppl.1-s1.docx
A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome.
Wang Y et al.
Frontiers in Genetics, 2022
A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Mintoff D et al.
Molecular Genetics & Genomic Medicine, 2021
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
Nijman IJ et al.
The Journal of Allergy and Clinical Immunology, 2014
Select a paper to view details