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Research 151–180 of 1000+
- A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia
- A homozygous missense variant in type I keratin <i>KRT25</i> causes autosomal recessive woolly hair
- Detection of Type IIHair Keratin Gene in a Family with Monilethrix
- Identification of SNPs and expression patterns of FZD3 gene and its effect on wool traits in Chinese Merino sheep (Xinjiang Type)
- The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy
- 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
- A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
- Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82
- A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
- <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis
- Effects of KRTAP20-1 Gene Variation on Wool Traits in Chinese Tan Sheep
- Association of Gly972Arg variant of insulin receptor subtrate-1 and Gly1057Asp variant of insulin receptor subtrate-2 with polycystic ovary syndrome in the Chinese population
- A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
- Role of the Autoimmune Regulator (<i>AIRE</i>) gene in alopecia areata: Strong association of a potentially functional <i>AIRE</i> polymorphism with alopecia universalis
- 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
- Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by <i>LIPH</i> Pathogenic Variants
- Genetic variation in the ovine <i>KAP22-1</i> gene and its effect on wool traits in Egyptian sheep
- A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
- Heterozygous <i>KRT32</i> variant is responsible for autosomal dominant loose anagen hair syndrome
- Localized variant of junctional epidermolysis bullosa with R795X mutation
- Variation in the ovine trichohyalin gene and its association with wool curvature
- De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
- Polymorphisms of the Androgen Receptor Gene and the Estrogen Receptor β Gene Are Associated with Androgen Levels in Women1
- Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
- Identification of the Ovine Keratin-Associated Protein 21-1 Gene and Its Association with Variation in Wool Traits
- Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
- Clinical Findings, Response to Steroid Treatment, and Recurrence Rate in Alopecia Areata Patients with or without a Nonsynonymous Variant of Coiled-Coil Alpha-Helical Rod Protein 1
- SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION