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Research 61–90 of 329
- A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
- A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
- Corneodesmosin: Structure, Function and Involvement in Pathophysiology
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- Testosterone levels in relation to oral contraceptive use and the androgen receptor CAG and GGC length polymorphisms in healthy young women
- CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
- Molecular basis of hypohidrotic ectodermal dysplasia: an update
- Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
- Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
- A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
- SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
- Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
- A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
- A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
- Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
- What causes hidradenitis suppurativa ?—15 years after
- Cantú Syndrome Is Caused by Mutations in ABCC9
- Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
- Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
- Cryptic Patterning of Avian Skin Confers a Developmental Facility for Loss of Neck Feathering
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
- Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
- ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
- Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development
- Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
- Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome