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Research 151–180 of 437
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- Editors' Picks
- Inherited Epidermolysis Bullosa: A Clinical Case
- 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
- Current Genetics in Hair Diseases
- Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
- Keratins and skin disease
- Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ
- 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
- Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
- 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
- An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
- Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
- PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene
- Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
- Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
- 545 Skin Organoids derived from NCSTN mutated patient-induced pluripotent stem cells recapitulate Hidradenitis Suppurativa pathogenic hallmarks
- Recently Identified Forms of Epidermolysis Bullosa
- The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
- Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
- Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review
- Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies
- Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
- The accelerated aging skin in rhino‐like SHJH<sup><i>hr</i></sup> mice
- https://researchopenworld.com/genetics-of-hidradenitis-suppurativa/#
- Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia
- Nonclassic adrenal hyperplasia
- Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports