Associated Papers
Feeding-Triggered Seizures in a Newborn with AP1S1-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare Disease.
Cavalli A et al.
Journal of Clinical Medicine, 2025
41517358 (PubMed )
Supplement: jcm-15-00106-s001.zip › Table_S1_Extensive_review_of_AP1S1-related_MEDNIK_syndrome_reported_features.xlsx › Foglio1
Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.
Huang CY et al.
Bmc Cancer, 2025
41068688 (PubMed )
Supplement: 12885_2025_15053_MOESM2_ESM.xlsx › Table.S4
Clinical and Genetic Functional Validation of a Novel AP1S1 Mutation Causing MEDNIK Syndrome.
Duan L et al.
International Journal of Genomics, 2025
Identifying Potential Neoantigens for Cervical Cancer Immunotherapy Using Comprehensive Genomic Variation Profiling of Cervical Intraepithelial Neoplasia and Cervical Cancer.
Bao C et al.
Frontiers in Oncology, 2021
34221990 (PubMed )
Supplement: Table_10.xlsx › Table_S10
MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features.
Incecik F et al.
Metabolic Brain Disease, 2018
Neuro-ichthyotic Syndromes: A Case Series.
Incecık F et al.
Journal of Pediatric Neurosciences, 0
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