Associated Papers
Intra-familial phenotype variant in hypoplastic amelogenesis imperfecta under a complex genetic component: a family report, whole-exome sequencing, and literature review.
Lanza CRM et al.
Journal of Applied Oral Science : Revista Fob, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
ENAM mutations and digenic inheritance.
Zhang H et al.
Molecular Genetics & Genomic Medicine, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.
Koruyucu M et al.
Journal of Dental Research, 2018
ENAM mutations with incomplete penetrance.
Seymen F et al.
Journal of Dental Research, 2014
Select a paper to view details