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Research 31–60 of 193
- Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
- A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
- A comprehensive genome-wide analysis for signatures of selection in goat (genus Capra) revealed new candidate genes for environmental adaptation and productive traits
- A Rare Case of Severe Acrodermatitis Enteropathica During Covid-19 Lockdown.
- A Founder Mutation in the <i>POMC</i> 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
- Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene
- Resequencing and Signatures of Selective Scans Point to Candidate Genetic Variants for Hair Length Traits in Long-Haired and Normal-Haired Tianzhu White Yak
- Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage
- Genome-Wide Association Study of Fiber Diameter in Alpacas
- Trichoscopy in genetic hair shaft abnormalities
- Recently Identified Forms of Epidermolysis Bullosa
- Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica
- A review of genotrichoses and hair pathology associated with inherited skin diseases
- Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- Biotin Is Required for the Zinc Homeostasis in the Skin
- Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
- A study on efficacy of oral zinc therapy for treatment of acrodermatitis enteropathica
- Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
- Werner's syndrome: incidental finding during pregnancy
- An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
- Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
- Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
- Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- Signature selection analysis reveals candidate genes associated with production traits in Iranian sheep breeds
- Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss