Search
for
Sort by
Research 31–60 of 489
- A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
- A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- Novel <i>ABCD1</i> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
- Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
- Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
- Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
- Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)
- Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- The Genetics of Human Skin Disease
- Disease causing homozygous variants in the human hairless gene
- Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
- Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
- Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features
- 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
- Novel insights into the molecular mechanisms underlying generalized glucocorticoid resistance and hypersensitivity syndromes
- Genetics of Inherited Ichthyoses and Related Diseases
- Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
- E-Poster
- WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
- Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
- Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
- Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
- Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
- Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
- 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
- CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)
- Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
- Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia