Search
for
Sort by
Research 91–120 of 1000+
- Reviewer #3 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
- Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
- Molecular Basis of Hereditary Hair Diseases
- A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
- Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
- Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
- Research Snippets
- Curly : a new hair defect mutation in the SELH/bc mouse strain
- 4 Vitamin D resistance
- Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
- Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico
- Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
- Odd-Looking Hair and Progressive Alopecia in Mother and Son
- Alopecia frontal fibrosante: revisão bibliográfica dos aspectos gerais, fisiopatológicos, diagnósticos e do tratamento
- When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
- Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
- Identification of a novel<i>PNPLA1</i>mutation in a Spanish family with autosomal recessive congenital ichthyosis
- Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
- NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
- Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis
- Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
- Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
- A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
- Woolly Hair in Two Siblings
- SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
- Human stratum corneum proteomics reveals cross‐linking of a broad spectrum of proteins in cornified envelopes
- Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
- Enanthem in Patients With COVID-19 and Skin Rash