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Research 61–90 of 840
- Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
- Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia
- A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
- De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy
- Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
- A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
- Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
- Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice
- Global Landscapes of Human Phenotypic Variation in Inherited Traits
- Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
- Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
- Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in <i>WNT10A</i>
- Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
- A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
- Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
- Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis
- Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer
- Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
- Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
- Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
- Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
- Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia
- 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 homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
- NUDT15 polymorphism explains serious toxicity to azathioprine in Indian patients with chronic immune thrombocytopenia and autoimmune hemolytic anemia: a case series
- Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
- Genetic Variants and Protective Immunity against SARS-CoV-2