Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis. [PDF]
Ital J Pediatr, 2022 Serra G +7 more
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Bilateral Systematised Epidermolytic Epidermal Nevus: A case report. [PDF]
Sultan Qaboos Univ Med J, 2021 Kerawala SR, Rizvi NU, Tabassum S.
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Case Report: Recessive Dystrophic Epidermolysis Bullosa With Severe Esophageal Stenosis: A Case Report and Literature Review. [PDF]
Br J Biomed Sci, 2022 Xu Z, Huang T, Pan M, Huang Y, Jiang Y.
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Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review. [PDF]
Orphanet J Rare Dis, 2023 Fournier H +3 more
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Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform. [PDF]
Hum Genome Var, 2023 Liu Y +15 more
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Ichthyoses-A Clinical and Pathological Spectrum from Heterogeneous Cornification Disorders to Inflammation. [PDF]
Dermatopathology (Basel), 2021 Metze D, Traupe H, Süßmuth K.
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KINDERLEICHT SIND SIEMENS- GASKOCH-, BRAT-, BACK- HEIZ- U. BADEAPPARATE ZU BEDIENEN, FRIEDR. SIEMENS, WIEN IX. Kinderleicht sind Siemens- Gaskoch-, Brat-, Back- Heiz- u. Badeapparate zu bedienen, Friedr. Siemens, Wien IX. ( -
Siemens
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Mutations in KRT10 in epidermolytic acanthoma. [PDF]
J Cutan Pathol, 2020 Cheraghlou S +4 more
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Five Functional Aspects of the Epidermal Barrier. [PDF]
Int J Mol Sci, 2021 Lefèvre-Utile A +3 more
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Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge. [PDF]
J Clin Med, 2021 Cantile T +7 more
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