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Research 181–210 of 868
- 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
- Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome
- Marie-unna hereditary hypotrichosis
- 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
- Clinical Impact of Molecular Diagnostics in Endocrinology
- 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
- Odd-Looking Hair and Progressive Alopecia in Mother and Son
- 9. Immunology and Genetics
- Molecular genetics of androgen insensitivity
- CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
- SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
- Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
- Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles
- Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
- Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
- An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
- Hairless and Wnt Signaling: Allies in Epithelial Stem Cell Differentiation
- Congenital hair loss disorders: Rare, but not too rare
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
- Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
- Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II