Search
for
Sort by
Research 241–270 of 1000+
- Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
- A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
- Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
- Common genetic hair shaft abnormalities may be visualized by light and electron microscope
- Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
- Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
- Alopecia in a 19-Month-Old Boy
- A Case Report of Kaphaja Granthi w.s.r. to Trichilemmal Cyst
- The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis
- Marie-unna hereditary hypotrichosis
- Inherited Disorders of the Hair
- Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
- Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
- Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
- Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- Monilethrix: A rare hereditary condition
- P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
- Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
- Monilethrix in three generations
- Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
- Monilethrix – Case report of a rare disease
- Familial Dyskeratotic Comedones: A Case Report and Literature Review
- Uncovering the genetic architecture and evolutionary roots of androgenetic alopecia in African men
- Hair Shaft Defect in a Teenage Girl: Trichoscopy Saves the Day!
- The inheritance of common baldness: Two B or not two B ?
- Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
- Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza