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Research 391–420 of 1000+
- Androgenetic alopecia: An autosomal dominant disorder
- STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
- Interventions for preventing the progression of autosomal dominant polycystic kidney disease
- Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
- Marie‐Unna Hereditary Hypotrichosis or Autosomal Recessive Hereditary Hypotrichosis with Woolly Hair: The Diagnostic Dilemma of Labeling Cases with Hypotrichosis
- Heterozygous <i>KRT32</i> variant is responsible for autosomal dominant loose anagen hair syndrome
- Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
- An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
- A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
- Transplantation of autologous single hair units heals chronic wounds in autosomal recessive dystrophic epidermolysis bullosa: A proof-of-concept study
- [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)].
- A nonsense variant in <i>KRT31</i> is associated with autosomal-dominant monilethrix
- Faculty Opinions recommendation of Association of topical minoxidil with autosomal recessive woolly hair/hypotrichosis caused by LIPH pathogenic variants.
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- The inheritance of common baldness: Two B or not two B ?
- Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
- 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
- The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis
- Enanthem in Patients With COVID-19 and Skin Rash
- A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
- Genetics of Inherited Ichthyoses and Related Diseases
- Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
- Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children
- A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
- A Small Deletion Hotspot in the Type II Keratin Gene<i>mK6irs1/Krt2-6g</i>on Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (<i>Ca</i>) Mutation
- 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
- Human stratum corneum proteomics reveals cross‐linking of a broad spectrum of proteins in cornified envelopes
- Congenital hypotrichosis due to short anagen