共 50 条
- [31] Identification of a novel pathogenic variant in FBN1 associated with Marfan syndrome COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2022, 8 (04):
- [32] Successful medical treatment of west syndrome with a KCNA2 variant: a case report ACTA EPILEPTOLOGICA, 2022, 4 (01):
- [33] Successful medical treatment of west syndrome with a KCNA2 variant: a case report Acta Epileptologica, 4
- [34] A novel pathogenic variant of DNMT3A associated with craniosynostosis: a case report of Heyn-Sproul-Jackson syndrome FRONTIERS IN PEDIATRICS, 2023, 11
- [36] Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report COLOMBIA MEDICA, 2019, 50 (01): : 40 - 45
- [38] A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant PHARMACOGENOMICS & PERSONALIZED MEDICINE, 2023, 16 : 817 - 823
- [40] Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report Hereditary Cancer in Clinical Practice, 19