Search
forResearch 10 of 1000+
- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene
- Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
- Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
- A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
- Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat
- Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
- Cantú Syndrome Is Caused by Mutations in ABCC9
- A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
- Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
- Deciphering the pathogenesis of central centrifugal cicatricial alopecia
Learn
— no results
Try a deeper search in learn →Community
— no results
Try a deeper search in community →