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Research 181–210 of 1000+
- Beyond Expectations
- The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
- Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
- 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
- Congenital Atrichia: A Case Report
- A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
- PCSK9: From Nature’s Loss to Patient’s Gain
- Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
- Reply
- Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
- Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
- Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
- Biotin and biotinidase deficiency
- New developments in the molecular treatment of ichthyosis: review of the literature
- Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
- Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes
- Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75
- A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
- Forkhead/winged-helix transcription factor whn regulates hair keratin gene expression: Molecular analysis of theNude skin phenotype
- Regulation of Receptor Binding Specificity of FGF9 by an Autoinhibitory Homodimerization
- Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
- The nude gene and the skin
- A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
- Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
- Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia
- Keratin disorders: from gene to therapy
- Learning from nudity: lessons from the nude phenotype
- Nonclassic adrenal hyperplasia
- To grow or not to grow: Hair morphogenesis and human genetic hair disorders
- Acne-associated syndromes: models for better understanding of acne pathogenesis