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Research 31–60 of 1000+
- Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
- Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
- Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
- Homozygous missense mutation in the<i>LIPH</i>gene causing autosomal recessive hypotrichosis simplex in a Chinese patient
- An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
- Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
- Tricotiodistrofia. Reporte de un caso
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
- Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- Ichthyosis with confetti: a rare diagnosis and treatment plan
- A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
- Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
- Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
- Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
- Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
- Trichoscopy in Unveiling the Triad of Netherton Syndrome
- Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
- Current Genetics in Hair Diseases
- Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
- Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings
- Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis
- Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
- Semidominant Inheritance in Epidermolytic Ichthyosis
- Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
- Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention
- Successful induction of oral tolerance in Netherton syndrome
- A review of genotrichoses and hair pathology associated with inherited skin diseases