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Research 361–390 of 1000+
- Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development
- The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
- Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
- Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
- Transplantation of autologous single hair units heals chronic wounds in autosomal recessive dystrophic epidermolysis bullosa: A proof-of-concept study
- Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
- Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene
- Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
- Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations
- Clinical Management of Prostate Cancer in High-Risk Genetic Mutation Carriers
- Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene
- Successful Management of Netherton Syndrome Using IVIG and Dupilumab: A Case Report
- Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
- Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
- Severe metabolic disorders coexisting with Werner syndrome: a case report
- Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
- Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene <i>LIPH</i>
- Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
- Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
- Netherton Syndrome – Responding to Oral Retinoids
- ‘Hard’ and ‘soft’ principles defining the structure, function and regulation of keratin intermediate filaments
- A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
- The nude gene and the skin
- New developments in the molecular treatment of ichthyosis: review of the literature
- Effectiveness of Anastrozole and Cyproterone Acetate in Two Brothers with Familial Male Precocious Puberty
- Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
- Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
- Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
- A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies