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Research 121–150 of 1000+
- Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
- Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- K <sub>ATP</sub> Channels and Cardiovascular Disease
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
- <i>PIK3CA</i> gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
- Aromatase deficiency in a male patient - Case report and review of the literature.
- Beyond Expectations
- Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
- The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
- Differential activity of 2-methylene-19-nor vitamin D analogs on growth factor gene expression in rhino mouse skin and comparison to all-trans retinoic acid
- Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene <i>LIPH</i>
- Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
- Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
- Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
- Co-occurrence of monilethrix and Type 1 diabetes mellitus
- Molecular determinants for the chemical activation of the warmth-sensitive TRPV3 channel by the natural monoterpenoid carvacrol
- Rare and Underappreciated Causes of Polycystic Ovarian Syndrome
- Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
- A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
- Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
- Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
- β1 Integrins with Individually Disrupted Cytoplasmic NPxY Motifs Are Embryonic Lethal but Partially Active in the Epidermis
- Biotin and biotinidase deficiency
- Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
- Phenotyping mice with skin, hair, or nail abnormalities: A systematic approach and methodologies from simple to complex
- Visualising Androgen Receptor Activity in Male and Female Mice
- Regulation of Receptor Binding Specificity of FGF9 by an Autoinhibitory Homodimerization
- Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment