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Research 151–180 of 1000+
- Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
- Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss
- Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
- A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
- Discovery of Four New<em> FGF5</em> Variants Causing Long Hair in the Dog
- A Mosaic Hotspot <i>PLCD1</i> Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus
- Resequencing and Signatures of Selective Scans Point to Candidate Genetic Variants for Hair Length Traits in Long-Haired and Normal-Haired Tianzhu White Yak
- Novel <i>ABCD1</i> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
- Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- Structural and epistatic regulatory variants cause hallmark white spotting in cattle
- In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
- CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
- Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
- Characterization of X-Linked SNP genotypic variation in globally distributed human populations
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- Inherited Epidermolysis Bullosa: A Clinical Case
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- Registrars’ Symposium: Summaries of Papers
- Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
- Frontal Alopecia after Repeated Botulinum Toxin Type A Injections for Forehead Wrinkles: An Underestimated Entity?
- Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency
- Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
- Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- Frontal Fibrosing Alopecia and the Role of Cosmeceuticals in Its Pathogenesis
- Familial Frontal Fibrosing Alopecia
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- Rare and common genetic determinants of metabolic individuality and their effects on human health
- The Genetic Architecture of Alopecia Areata
- High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort