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Research 61–90 of 123
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
- STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
- Macrophages in Skin Wounds: Functions and Therapeutic Potential
- Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
- Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis
- Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
- Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
- Akebia quinata and Akebia trifoliata - a review of phytochemical composition, ethnopharmacological approaches and biological studies
- Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis
- Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
- Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling
- An epistatic effect of KRT25 on SP6 is involved in curly coat in horses
- Effective holistic characterization of small molecule effects using heterogeneous biological networks
- A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
- The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
- Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
- PRMT5 inhibition has a potent anti-tumor activity against adenoid cystic carcinoma of salivary glands
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- <i>IGF2BP2</i> and <i>IGFBP3</i> Genotypes, Haplotypes, and Genetic Models Studies in Polycystic Ovary Syndrome
- Biological Evidence of Improved Wound Healing Using Autologous Micrografts in a Diabetic Animal Model
- Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
- A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
- Assessment of hair and cashmere properties and their genetic background of several goat breeds in Southwest China
- Empirical evidence of observer bias in randomized clinical trials: updated and expanded analysis of trials with both blinded and non-blinded outcome assessors
- De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
- Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy