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Research 30 of 830
- Genome-wide detection of RNA editing events during the hair follicles cycle of Tianzhu white yak
- Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
- Identification of novel mutation in the<i>HR</i>gene responsible for atrichia with papular lesions in a Pakistani family
- Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
- Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
- Association analysis of polymorphisms in six keratin genes with wool traits in sheep
- Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
- 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
- Keratin 71 Mutations: From Water Dogs to Woolly Hair
- Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
- Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
- Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
- Novel missense mutation in the EDA gene in a family affected by oligodontia
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
- Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
- Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
- Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle
- Dendrobium officinale polysaccharide improves hair regrowth in androgenetic alopecia mice and is associated with coordinated changes in local steroid metabolism, ESR1 activation, and keratin-related follicular responses
- Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
- A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
- Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
- Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
- Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
- A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- Global Landscapes of Human Phenotypic Variation in Inherited Traits
- The Polycystic Ovary Syndrome - Challenges and Opportunities in Adolescent Medicine
- A missense mutation in Lama3 causes androgen alopecia