Associated Papers
Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.
Ates K et al.
Molecular Syndromology, 2025
The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.
Borovikov A et al.
Human Mutation, 2024
Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review.
Sun B et al.
Orphanet Journal of Rare Diseases, 2022
Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset.
Domogala DD et al.
Human Genomics, 2021
34930489 (PubMed )
Supplement: 40246_2021_369_MOESM1_ESM.docx
Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.
Thomford NE et al.
Omics : a Journal of Integrative Biology, 2018
Select a paper to view details