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Research 271–300 of 1000+
- Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
- Single-Cell RNA Profiling of Human Skin Reveals Age-Related Loss of Dermal Sheath Cells and Their Contribution to a Juvenile Phenotype
- A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
- Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
- Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
- Itpr3 Is Responsible for the Mouse Tufted (tf) Locus
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- Mice with a null mutation of the TGFα gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation
- Elevated Dehydroepiandrosterone Sulfate Levels as the Reproductive Phenotype in the Brothers of Women with Polycystic Ovary Syndrome
- The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered <i>Hoxc</i> gene expression in the ears
- Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype
- Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype
- Anti-Müllerian hormone gene polymorphism is associated with androgen levels in Chinese polycystic ovary syndrome patients with insulin resistance
- Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice
- Modulation of the differentiated phenotype of keratinocytes of the hair follicle and from epidermis
- Phenotype of Normal Hairline Maturation
- The role of biologic treatment in special scenarios in hidradenitis suppurativa: Facial and nape phenotype, dissecting cellulitis of the scalp, and lymphedema
- Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat
- Laser-Induced Koebner-Related Skin Reactions: A Clinical Overview
- A Case of IFAP Syndrome with Severe Atopic Dermatitis
- AnnoPharma: Detection of substances responsible of ADR by annotating and extracting information from MEDLINE abstracts
- Learning from nudity: lessons from the nude phenotype
- Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
- The Functional Diversity of Epidermal Keratins Revealed by the Partial Rescue of the Keratin 14 Null Phenotype by Keratin 16
- The Frequency of Metabolic Syndrome is Higher Among PCOS Brazilian Women With Menstrual Irregularity Plus Hyperandrogenism
- A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
- An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
- Free androgen index (FAI)’s relations with oxidative stress and insulin resistance in polycystic ovary syndrome
- PNKP is required for maintaining the integrity of progenitor cell populations in adult mice
- Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits