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Research 121–150 of 1000+
- Somatic Mutations in Normal Tissues: New Perspectives on Early Carcinogenesis
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
- Two familial cases of Olmsted-like syndrome with a G573V mutation of the<i>TRPV3</i>gene
- Novel missense mutation in the EDA gene in a family affected by oligodontia
- Prevalent founder mutation c.736T>A of <i>LIPH</i> in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood
- Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
- 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 mutation in MAP2 is associated with prenatal hair follicle density
- A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
- Null Mutation of 5α-Reductase Type I Gene Alters Ethanol Consumption Patterns in a Sex-Dependent Manner
- Connexin 26 (<i>GJB2</i>) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
- Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
- Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a <i>U2HR</i> mutation
- Hague (<i>Hag</i>): A New Mouse Hair Mutation With an Unstable Semidominant Allele
- Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
- Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (<i>Hr<sup>rh-R</sup></i>) in the Hairless Gene (<i>Hr</i>)
- Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
- <i>TRPS1</i> mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- Novel splice site mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
- CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
- Autosomal recessive congenital ichthyosis due to <i>PNPLA1</i> mutation in a golden retriever–poodle cross‐bred dog and the effect of topical therapy
- The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
- Pleiotropic effects of the nude mutation.
- CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
- A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
- The Near-Naked Hairless (Hr) Mutation Disrupts Hair Formation but Is Not Due to a Mutation in the Hairless Coding Region
- Hidradenitis suppurativa and Mediterranean fever gene mutations
- Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair