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Research 151–180 of 1000+
- EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
- Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
- An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
- Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
- Kin‐cohort analysis of <i>LRRK2</i>‐G2019S penetrance in Parkinson's disease
- Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
- Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
- Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles
- Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
- Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
- RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
- WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation
- Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
- Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
- Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
- K <sub>ATP</sub> Channels and Cardiovascular Disease
- Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
- Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
- Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage
- Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
- Chrousos syndrome: from molecular pathogenesis to therapeutic management