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Research 241–270 of 1000+
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
- 270 A novel small compound HPH-15 antagonizes TGF-β/Smad signaling and ameliorates experimental skin fibrosis
- Inherited Epidermolysis Bullosa: A Clinical Case
- TCL1 transgenic mouse model as a tool for the study of therapeutic targets and microenvironment in human B-cell chronic lymphocytic leukemia
- Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
- Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
- Beyond Expectations
- 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
- <i>DSG4</i> Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case
- Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
- Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
- Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
- FGF5 is a crucial regulator of hair length in humans
- An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
- The keratins and their disorders
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
- Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development
- Matriptase-2, A Novel Suppressor of Hepcidin.
- Recently Identified Forms of Epidermolysis Bullosa
- Reduced plakoglobin increases the risk of sodium current defects and atrial conduction abnormalities in response to androgenic anabolic steroid abuse
- BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil
- Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
- An essential role for <i>Rxrα</i> in the development of Th2 responses
- Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
- A kindred with mutant IKAROS and autoimmunity
- Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- Impaired Notch‐MKP‐1 signalling in hidradenitis suppurativa: an approach to pathogenesis by evidence from translational biology