Search
for
Sort by
Research 121–150 of 343
- Clinical Snippets
- Editors' Picks
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- 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
- Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- FGF5 is a crucial regulator of hair length in humans
- Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
- SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
- Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
- Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
- Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling
- De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
- CRISPR/Cas9‐mediated loss of FGF5 function increases wool staple length in sheep
- Recently Identified Forms of Epidermolysis Bullosa
- Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
- Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
- Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts
- https://researchopenworld.com/genetics-of-hidradenitis-suppurativa/#
- Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
- Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
- Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia
- Keratin disorders: from gene to therapy
- <i>WNT10A</i> , dermatology and dentistry
- Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review
- Learning from nudity: lessons from the nude phenotype
- A Clinical Approach to Severe Insulin Resistance
- Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
- A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome
- Analysis of the FGF gene family provides insights into aquatic adaptation in cetaceans
- Dermatopathology and molecular genetics