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Research 31–60 of 1000+
- Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
- Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
- The ITGB6 gene: its role in experimental and clinical biology
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
- Recently Identified Forms of Epidermolysis Bullosa
- Rare and common genetic determinants of metabolic individuality and their effects on human health
- Integrative analysis of Iso-Seq and RNA-seq data reveals transcriptome complexity and differential isoform in skin tissues of different hair length Yak
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- Genome-wide detection of RNA editing events during the hair follicles cycle of Tianzhu white yak
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Comparative genome analyses reveal the unique genetic composition and selection signals underlying the phenotypic characteristics of three Chinese domestic goat breeds
- 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
- Ehlers-Danlos syndrome: From bedside to bench
- Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
- Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
- Genetics and Epigenetics of Polycystic Ovary Syndrome
- Genetics of Wool and Cashmere Fibre: Progress, Challenges, and Future Research
- Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
- Darier Sign: A Historical Note
- Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
- Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle
- How to diagnose a lipodystrophy syndrome
- Generation of Cashmere Goats Carrying an <i>EDAR</i> Gene Mutant Using CRISPR-Cas9-Mediated Genome Editing
- Molecular pathology of skin adnexal tumours
- Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
- Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis
- Converging physiological roles of the anthrax toxin receptors
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex