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Research 30 of 1000+
- Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82
- 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
- Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study
- 303 The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank
- ESDR303 – The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank
- Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data
- Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
- Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
- Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
- Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth
- Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
- PLCD1 and Pilar Cysts
- Identification of a recurrent nonsense mutation in <i>HR</i> gene responsible for atrichia with papular lesions in two Kashmiri families
- A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
- Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region
- A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
- Utilizing functional genomics approaches to characterize risk genes in alopecia areata
- Deciphering the pathogenesis of central centrifugal cicatricial alopecia
- 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
- 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
- News in brief
- Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
- Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
- Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
- Adli Uygulamalarda Yeni Nesil Dizileme Teknolojilerinin Yeri ve Önemi
- Pseudallescheria boydii infection associated with IgG4-related disease