Associated Papers
A severe ABCC6 -induced generalized arterial calcification of infancy overshadowed by the EGFR -associated neonatal inflammatory skin and bowel disease 2 in a Roma girl.
Karabinos A et al.
The Journal of Dermatology, 2025
RBM10 Mutation as a Potential Negative Prognostic/Predictive Biomarker to Therapy in Non-Small-Cell Lung Cancer.
Reyes A et al.
Clinical Lung Cancer, 2024
Autoinflammatory Keratinization Diseases-The Concept, Pathophysiology, and Clinical Implications.
Blicharz L et al.
Clinical Reviews in Allergy & Immunology, 2023
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
Neonatal cutaneous inflammatory syndrome associated with homozygous epidermal growth factor receptor mutation.
Labbouz S et al.
Pediatric Dermatology, 2023
NOS3 and CTH gene mutations as new molecular markers for detection of lung adenocarcinoma.
Abdullah Ramadhan I et al.
Peerj, 2023
38107574 (PubMed )
Supplement: peerj-11-16209-s002.xls › NOS3
Genomic profile of advanced breast cancer in circulating tumour DNA.
Kingston B et al.
Nature Communications, 2021
33893289 (PubMed )
Supplement: 41467_2021_22605_MOESM4_ESM.xlsx › SNVs_Indels
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_3.XLSX › Sheet1
Plasma Circulating Tumor DNA Sequencing Predicts Minimal Residual Disease in Resectable Esophageal Squamous Cell Carcinoma.
Liu T et al.
Frontiers in Oncology, 2021
34094900 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S6
Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy.
Earl BR et al.
The Journal of Dermatology, 2020
Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency.
Mazurova S et al.
The Journal of Dermatology, 2020
Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction.
Hayashi S et al.
Human Genome Variation, 2018
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