Carmelo Schepis

Troina, Italy

Last Updated: 09/26/2026

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Found 35 publications

Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene.

Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene.

Journal: Molecular genetics & genomic medicine
Published: March 19, 2022

Cognitive Impairment in Inpatients with Prurigo Nodularis and Psychiatric Comorbidities.

Cognitive Impairment in Inpatients with Prurigo Nodularis and Psychiatric Comorbidities.

Journal: International journal of environmental research and public health
Published: May 21, 2021

The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.

The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.

Journal: Acta dermato-venereologica
Published: May 06, 2021

A multicenter study on quality of life of the "greater patient" in congenital ichthyoses.

A multicenter study on quality of life of the "greater patient" in congenital ichthyoses.

Journal: Orphanet journal of rare diseases
Published: May 03, 2021

An odd precocious case of progressive osseous heteroplasia.

An odd precocious case of progressive osseous heteroplasia.

Journal: Italian journal of dermatology and venereology
Published: October 21, 2020

A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma.

A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma.

Journal: Dermatology online journal
Published: August 20, 2020

Two siblings affected by Netherton/Comèl syndrome. Diagnostic pathology and description of a new SPINK5 variant.

Two siblings affected by Netherton/Comèl syndrome. Diagnostic pathology and description of a new SPINK5 variant.

Journal: Dermatology online journal
Published: August 02, 2019

Impressive reddish nodules with neoplastic-like appearance in a patient with Alzheimer's disease.

Impressive reddish nodules with neoplastic-like appearance in a patient with Alzheimer's disease.

Journal: Indian journal of dermatology, venereology and leprology
Published: March 01, 2019

A small blackberry-like nodule on the nipple in a pregnant affected by tuberous sclerosis complex.

A small blackberry-like nodule on the nipple in a pregnant affected by tuberous sclerosis complex.

Journal: Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia
Published: February 06, 2019

Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy.

Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy.

Journal: Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia
Published: May 22, 2018

An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis.

An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis.

Journal: European journal of dermatology : EJD
Published: February 06, 2018

Plica neuropathica (matting hair) in an autistic patient.

Plica neuropathica (matting hair) in an autistic patient.

Journal: The Journal of dermatology
Published: June 02, 2017
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Last Updated: 09/26/2026