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Research 511–540 of 1000+
- Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
- Diagnosis and management of primary hypothyroidism in Traditional Chinese Medicine (TCM) and Traditional Indian Medicine (Ayurveda)
- The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
- Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
- Identification of key genes and signaling pathways related to Hetian sheep wool density by RNA-seq technology
- Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
- Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
- Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
- Genetic Disorders and Defects in Vitamin D Action
- Efficacy of topical sensitizers in the treatment of alopecia areata
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
- Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
- Is the Loose Anagen Hair Syndrome a Keratin Disorder?
- A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- Genetic interplays between Msx2 and Foxn1 are required for Notch1 expression and hair shaft differentiation
- Role of janus kinase inhibitors in the treatment of alopecia areata
- Primary cicatricial alopecia: diagnosis and treatment
- A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
- Ichthyosis with confetti: clinics, molecular genetics and management
- Clinical and histological challenge in the differential diagnosis of diffuse alopecia: female androgenetic alopecia, telogen effluvium and alopecia areata – part II
- Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
- μ-Crystallin, Thyroid Hormone-binding Protein, is Expressed Abundantly in the Murine Inner Root Sheath Cells
- Foxn1 in Skin Development, Homeostasis and Wound Healing
- The Role of the Slc39a Family of Zinc Transporters in Zinc Homeostasis in Skin
- A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report