Associated Papers
Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.
Moschella B et al.
Genes, 2025
Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification.
Yang D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
The Challenges and Opportunities of the Implementation of Comprehensive Genomic Profiling in Everyday Clinical Practice with Non-Small Cell Lung Cancer: National Results from Croatia.
Čerina D et al.
Cancers, 2023
37444505 (PubMed )
Supplement: cancers-15-03395-s001.zip › cancers-2455242-supplementary.xlsx › Specific_alterations
A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report.
Yang D et al.
Diagnostic Pathology, 2022
Parafibromin Abnormalities in Ossifying Fibroma.
Costa-Guda J et al.
Journal of the Endocrine Society, 2021
Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy.
Yuan Y et al.
Genetic Testing and Molecular Biomarkers, 2019
Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series.
Navarro Moreno C et al.
Hormone Research in Paediatrics, 2018
Single nucleotide polymorphisms of Toll-like receptors and susceptibility to infectious diseases.
Skevaki C et al.
Clinical and Experimental Immunology, 2015
Single nucleotide polymorphisms of HER2 related to osteosarcoma susceptibility.
Xin DJ et al.
International Journal of Clinical and Experimental Pathology, 2015
Carney complex and other conditions associated with micronodular adrenal hyperplasias.
Almeida MQ et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2010
Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD).
Tadjine M et al.
Clinical Endocrinology, 2008
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