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Research 31–60 of 1000+
- Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement
- Pathogenesis and management of TRPV3-related Olmsted syndrome
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- A Case of IFAP Syndrome with Severe Atopic Dermatitis
- Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging
- Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
- Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
- Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
- STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
- CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
- Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
- Abstracts
- Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
- A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
- Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
- Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis
- Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
- Nonclassic congenital adrenal hyperplasia
- Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
- A Genome-Wide Association Study and Machine-Learning Algorithm Analysis on the Prediction of Facial Phenotypes by Genotypes in Korean Women
- HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond
- Human Pigmentation: A Review of Molecular Mechanisms, Genetic Architecture, Evolution, Forensic DNA Phenotyping and Health Implications
- Genetic correlation analysis does not associate male pattern baldness with COVID-19
- Thehairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype
- The Impact of Vitamin D Receptor Gene Polymorphisms (FokI, ApaI, TaqI) in Correlation with Oxidative Stress and Hormonal and Dermatologic Manifestations in Polycystic Ovary Syndrome
- Tumor suppressor identity can contribute to heterogeneity of phenotype in hair follicle stem cell‐induced squamous cell carcinoma
- Evaluation of Retinal Changes in Women with Different Phenotypes of Polycystic Ovary Syndrome
- The Trotter collection: A review of Mildred Trotter's hair research and an update for studies of human variation
- Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits
- Genome-wide association study for cashmere traits in Inner Mongolia cashmere goat population reveals new candidate genes and haplotypes