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Research 61–90 of 1000+
- MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
- Heterozygous deletion of the <i>NSDHL</i> gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
- Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
- Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- Association of Rs231775 Genetic Variant of Cytotoxic T-lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case–Control Study
- Identification of a recurrent nonsense mutation in <i>HR</i> gene responsible for atrichia with papular lesions in two Kashmiri families
- Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
- A nonsense variant in <i>KRT31</i> is associated with autosomal-dominant monilethrix
- Gene detection in a family with monilethrix and observation of the treatment effect with 5% topical minoxidil
- A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
- Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
- Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
- EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
- A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats
- A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
- Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice
- Androgen receptor genetic variant predicts COVID‐19 disease severity: a prospective longitudinal study of hospitalized COVID‐19 male patients
- Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
- Werewolf, there wolf: variants in <i>Hairless</i> associated with hypotrichia and roaning in the lykoi cat breed
- 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
- 40 PRLR and PCCA variants associated with hair length in Brangus heifers
- The role of functional variants in the aetiology of polycystic ovary syndrome
- Discovery of Four New<em> FGF5</em> Variants Causing Long Hair in the Dog
- Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
- EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
- Modeling animal genomics in mice: An authentic approach for the functional interrogation of evolutionarily and agriculturally critical variants
- Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
- PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in <i>ACTB</i>
- Two siblings with uncombable hair syndrome: A new pathogenic variant