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- Discreet monilethrix: De novo mutation on the example of polish families
- POST-COVID 19 ENCEPHALITIS IN PATIENT WITH DE NOVO MUTATION IN THE SCN1A GENE, A CASE REPORT
- <i>De novo</i> mutations in monilethrix
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
- Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features
- Unique amino acid signatures that are evolutionarily conserved distinguish simple-type, epidermal and hair keratins
- Heterozygous deletion of the <i>NSDHL</i> gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
- Value of dermoscopy for the diagnosis of monilethrix
- EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
- Biochemical features of primary cells from a pediatric patient with a gain-of-function <i>ODC1</i> genetic mutation
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