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Research 91–120 of 1000+
- A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu
- Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
- Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
- 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
- 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
- A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.
- Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
- Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
- Planar Cell Polarity Cadherin Celsr1 Regulates Skin Hair Patterning in the Mouse
- Efficient Editing of CSLD2 Orthologue by CRISPR/Cas9 Affects Cell Morphogenesis of Root Hair in Spinach
- 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
- Spreading of Isolated Ptch Mutant Basal Cell Carcinoma Precursors Is Physiologically Suppressed and Counteracts Tumor Formation in Mice
- [Anejaculation caused by haemosiderosis: male infertility in hereditary haemochromatosis].
- S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
- Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
- Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
- 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
- [Molecular cloning of full-long cDNA sequences encoding hairless gene in the Kunming mouse].
- Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague
- Salt-losing tubulopathy and chronic dermatitis
- Identification of a novel<i>PNPLA1</i>mutation in a Spanish family with autosomal recessive congenital ichthyosis
- Uncombable hair in a case of Zellweger syndrome – A new association
- Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
- Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine