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Research 91–120 of 1000+
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
- Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
- Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
- Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82
- Investigating the role of keratin proteins and microbial associations in hereditary and pathogenic alopecia
- The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
- Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
- Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
- MiR-199a-3p Regulates the PTPRF/β-Catenin Axis in Hair Follicle Development: Insights into the Pathogenic Mechanism of Alopecia Areata
- Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
- Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome (PCOS) Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
- TCL1 transgenic mouse model as a tool for the study of therapeutic targets and microenvironment in human B-cell chronic lymphocytic leukemia
- Green fabrication of seedbed-like Flammulina velutipes polysaccharides–derived scaffolds accelerating full-thickness skin wound healing accompanied by hair follicle regeneration
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- Recently Identified Forms of Epidermolysis Bullosa
- A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
- Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
- Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
- Promotion of homology-directed DNA repair by polyamines
- Human Pigmentation: A Review of Molecular Mechanisms, Genetic Architecture, Evolution, Forensic DNA Phenotyping and Health Implications
- Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
- What does acne genetics teach us about disease pathogenesis?
- Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
- Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
- Perspectives of Kennedy's disease
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
- Polymorphisms in androgen and estrogen receptor genes: effects on male aging
- COVID-19: Understanding Inter-Individual Variability and Implications for Precision Medicine