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Research 511–540 of 1000+
- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene
- Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives
- Inherited epidermolysis bullosa: clinical and therapeutic aspects
- Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
- Ichthyosis with confetti: clinics, molecular genetics and management
- Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
- Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
- Efficacy of Dupilumab in Treating Atopic Dermatitis With Recurrent Eczema Herpeticum in a Patient With DOCK8-Deficiency Hyper-IgE Syndrome: A Case Report
- Case Report: 7 Year-Old Saudi Female with Monilethrix
- A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
- New developments in the molecular treatment of ichthyosis: review of the literature
- Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy.
- A missense mutation in Lama3 causes androgen alopecia
- Acquired Acrodermatitis Enteropathica in an Infant
- A case of acrodermatitis enteropathica misdiagnosed as staphylococcal scalded skin syndrome
- Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene <i>LIPH</i>
- Trichoscopy in genetic hair shaft abnormalities
- Primary cicatricial alopecia: diagnosis and treatment
- First Symposium of Ichthyosis Experts
- Effect of Oral Minoxidil on Monilethrix
- Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
- A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
- Polycystic ovary syndrome and iron overload: biochemical link and underlying mechanisms with potential novel therapeutic avenues
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy
- Diagnostic imaging in congenital adrenal hyperplasia – how does it help?
- 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
- 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
- A Homozygous Frameshift Mutation in the<i>HOXC13</i>Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
- A study on efficacy of oral zinc therapy for treatment of acrodermatitis enteropathica