Search
for
Sort by
Research 121–150 of 1000+
- 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
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
- Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
- <i>Hoxc13</i> mutant mice lack external hair
- Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
- Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
- Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development
- Clinical Snippets
- Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
- Mutations in Homocysteine Metabolism Genes Increase Keratin <i>N</i>-Homocysteinylation and Damage in Mice
- Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
- Clinical Snippets
- A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene
- Editors' Picks
- Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene
- The Editor's Choice
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
- The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
- Histological and dermatoscopic description of sphynx cat skin
- 199 Impairment of notch 1 signaling is a common defect in lesions from patients with hidradenitis suppurativa
- Molecular basis of androgen insensitivity
- Studies on basal cell carcinoma with emphasis on the role of the human homologue of the Drosophila patched gene
- Membrane androgen receptors may mediate androgen reinforcement
- Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
- Krtap16, Characterization of a New Hair Keratin-associated Protein (KAP) Gene Complex on Mouse Chromosome 16 and Evidence for Regulation by Hoxc13