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Research 151–180 of 815
- NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
- Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review
- Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report
- A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
- Detection of five substitution TPO mutations in Polycystic Ovary Syndrome (PCOS) and thyroid hormones disturbance patients
- Granulomatous skin involvement in a patient with an unusual <i>NOD2</i> mutation
- A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
- RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
- Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
- WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation
- What causes hidradenitis suppurativa ?—15 years after
- Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
- A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
- Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I
- Testosterone levels in relation to oral contraceptive use and the androgen receptor CAG and GGC length polymorphisms in healthy young women
- Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
- Alopecia in Epidermolysis Bullosa
- A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
- Molecular Genetics of Alopecias
- Gender-Difference in Hair Length as Revealed by Crispr-Based Production of Long-Haired Mice with Dysfunctional FGF5 Mutations
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
- 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
- Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
- Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
- Molecular genetics of androgen insensitivity
- CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation