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Research 571–600 of 1000+
- 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
- The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
- 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
- Hidradenitis suppurativa and Mediterranean fever gene mutations
- Topical minoxidil improves congenital hypotrichosis caused by <i>LIPH</i> mutations
- Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
- Gender-Difference in Hair Length as Revealed by Crispr-Based Production of Long-Haired Mice with Dysfunctional FGF5 Mutations
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
- A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
- Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
- A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation
- Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
- Connexin mutations in human disease
- Characterization of Bsk mice: I. The Bsk mutation does not involve a recombination of cornea-specific keratin 12 and skin-specific hair keratin genes.
- Double mutation of <i>claudin‐1</i> and <i>claudin‐3</i> causes alopecia in infant mice
- Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
- Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis
- Hypomorphic mutation in the hairless gene accelerates pruritic atopic skin caused by feeding a special diet to mice
- Filaggrin mutations as an archetype for understanding the pathophysiology of atopic dermatitis
- Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
- Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat
- The Tabby (Ta), Tabby-c (Tac), and Tabby-J (TaJ) Mutations, Chromosome X