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Research 481–510 of 1000+
- Identification of a recurrent nonsense mutation in <i>HR</i> gene responsible for atrichia with papular lesions in two Kashmiri families
- Mutation of the GDP-Fucose Biosynthesis Gene gmds Increases Hair Cell Number and Neuromast Regenerative Capacity in Zebrafish
- A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
- Short anagen hair syndrome is caused by mutations in the <i>WNT10A</i> gene and has a genetic overlap with male pattern hair loss
- Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
- Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
- 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
- Mutation analysis of the typeIIhair keratin gene in a family of Han nationality with monilethrix
- 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
- Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
- A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
- Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
- Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
- Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
- Mutation des menschlichen hairless -Gens bei Atrichia universalis
- Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
- Alopecia Universalis Associated with a Mutation in the Human <i>hairless</i> Gene
- Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
- Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
- A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
- Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools
- RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
- The role of vitamin D receptor mutations in the development of alopecia
- A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
- A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
- A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
- Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
- STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity