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Research 61–90 of 802
- 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
- Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
- 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
- A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome
- <i>NUDT15</i>,<i>FTO</i>, and<i>RUNX1</i>genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases
- 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
- 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
- JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
- Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
- Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy
- Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss
- A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
- Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology