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Research 301–330 of 350
- Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development
- Generalized Dermatitis Caused by <i>Staphylococcus aureus</i> in the European Bison
- Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide
- Study on the expression patterns of inner root sheath-specific genes in Tan sheep hair follicle during different developmental stages
- Interpretation of the Yak Skin Single-Cell Transcriptome Landscape
- E-Poster
- Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
- Epigenetic mechanism of Gtl2-miRNAs causes the primitive sheep characteristics found in purebred Merino sheep
- Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
- The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study
- Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
- A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child
- Independent DSG4 frameshift variants in cats with hair shaft dystrophy
- Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
- Андроген-опосередковані й андрогенонезалежні причини алопеції та акне в жінок. Огляд літератури
- Author Index
- Genetics of Diabetes in Childhood
- Genetic Analysis of Male Pattern Baldness and the 5α-Reductase Genes
- Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
- An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
- Is the Loose Anagen Hair Syndrome a Keratin Disorder?
- Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles
- Loss of epidermal Evi/Wls results in a phenotype resembling psoriasiform dermatitis
- Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
- Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA
- Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
- Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
- Recently Identified Forms of Epidermolysis Bullosa