Search
for
Sort by
Research 541–570 of 1000+
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
- WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
- Molecular basis of hypohidrotic ectodermal dysplasia: an update
- Applications and Risks of Nanomaterials Used in Regenerative Medicine, Delivery Systems, Theranostics, and Therapy
- Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
- A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
- Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
- Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
- Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
- Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging
- Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- Physical and mechanical cues affecting biomaterial-mediated plasmid DNA delivery: insights into non-viral delivery systems
- Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature
- Tissue engineering; strategies, tissues, and biomaterials
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
- The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
- Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
- A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
- 476 Development of an intrinsic skin sensor for blood glucose level with CRISPR-mediated genome editing in epidermal stem cells
- Novel Systematics of Nomenclature and Classification of Female Functional Androgenization (Including Polycystic Ovary Syndrome and Non-Classic Congenital Adrenal Hyperplasia)
- The E211 G>A Androgen Receptor Polymorphism Is Associated with a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia
- What may be the markers of the male equivalent of polycystic ovary syndrome?
- Investigation of variants of the aromatase gene (CYP19A1) in female pattern hair loss
- Lineage Tracing of Hair Follicle Stem Cells in Epidermal Whole Mounts