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Research 91–120 of 1000+
- Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
- A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
- A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
- Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague
- A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
- A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
- IL-17 axis is a significant driver of skin inflammation in Card14 mutant pityriasis rubra pilaris model mice
- A homozygous missense variant in type I keratin <i>KRT25</i> causes autosomal recessive woolly hair
- Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
- Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
- Loss of a homologous group of proteins in a dominantly inherited ectodermal malformation
- SAT-288 Successful Virilization of a PAIS Patient with a Missense Mutation In The Ligand-binding Domain Of The Androgen Receptor with Combined High-dose Testosterone and Aromatase Inhibitor
- Whiskers amiss, a new vibrissae and hair mutation near the Krt1 cluster on mouse Chromosome 11
- An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
- A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.
- Hair Follicle Disruption Facilitates Pathogenesis to UVB-Induced Cutaneous Inflammation and Basal Cell Carcinoma Development in Ptch+/− Mice
- Human FOXN1-Deficiency Is Associated with αβ Double-Negative and FoxP3+ T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation
- Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
- Deletion of Deoxyribonucleic Acid Binding Domain of the Vitamin D Receptor Abrogates Genomic and Nongenomic Functions of Vitamin D
- Planar Cell Polarity Cadherin Celsr1 Regulates Skin Hair Patterning in the Mouse
- Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
- Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling
- Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
- Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
- Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
- [Anejaculation caused by haemosiderosis: male infertility in hereditary haemochromatosis].
- S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
- Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
- Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype