Irene M.J. Mathijssen

机构：Erasmus MC, Erasmus MC - Sophia Children’s Hospital, ERN CRANIO, Erasmus University Rotterdam · ORCID：0000-0002-1675-9922

发表论文 178 篇 · 总被引 4523 次 · h-index 38

代表论文

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein (2022 · Genetics in Medicine · 被引 31)
3D Analysis of the Cranial and Facial Shape in Craniosynostosis Patients: A Systematic Review (2024 · Journal of Craniofacial Surgery · 被引 15)
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance (2023 · Genetics in Medicine · 被引 14)
Comparison of two surgical protocols for the treatment of unilateral cleft lip and palate: a multidisciplinary systematic review and meta-analysis (2024 · International Journal of Oral and Maxillofacial Surgery · 被引 12)
Black Bone MRI vs. CT in temporal bone assessment in craniosynostosis: a radiation-free alternative (2024 · Neuroradiology · 被引 10)
European Reference Networks – a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025 (2026 · Orphanet Journal of Rare Diseases · 被引 9)