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Research 121–150 of 1000+
- APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
- A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa
- Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
- Woolly Hair in Two Siblings
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
- Clinical Snippets
- Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility
- Biology and Genetics of Hair
- Is the Loose Anagen Hair Syndrome a Keratin Disorder?
- A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
- Current Genetics in Hair Diseases
- Cantú Syndrome Is Caused by Mutations in ABCC9
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
- A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
- Genetics of Inherited Ichthyoses and Related Diseases
- Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
- Congenital Adrenal Hyperplasia
- Diagnostic approach to low‐renin hypertension
- Corneodesmosin: Structure, Function and Involvement in Pathophysiology
- Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
- Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
- ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
- Clinical cases of Darier-White follicular dyskeratosis
- Targeting integrin pathways: mechanisms and advances in therapy
- Central Centrifugal Cicatricial Alopecia in the Adolescent Population: An Overview of Available Literature
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
- Trichoscopy in Hair Shaft Disorders