Search
for
Sort by
Research 241–270 of 1000+
- Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
- A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
- Structure of human type II 5 alpha-reductase gene.
- Structure of human type II 5 alpha-reductase gene
- Thehairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype
- Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
- A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
- Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
- A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
- Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
- Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
- Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
- Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
- Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
- 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
- Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
- 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
- Extrarenal Expression of 25-Hydroxyvitamin D<sub>3</sub>-1α-Hydroxylase<sup>1</sup>
- Splitting Hairs
- Protein Kinase C as a Therapeutic Target
- Organoid technology for tissue engineering
- Biotin Supplementation Ameliorates Murine Colitis by Preventing NF-κB Activation
- Novel synthesis of nicotinamide derivatives of cytotoxic properties
- Ginseng phytochemicals as therapeutics in oncology: Recent perspectives
- Dormancy in the stem cell niche
- Group IID, IIE, IIF and III secreted phospholipase A2s
- Ontogeny of enhancing factor in mouse intestines and skin
- Nutraceutical and Functional Scenario of Wheat Straw
- [A systemic lupus erythematosus patient with multiple aseptic bone necroses, thrombosis of superior mesenteric artery and anti-phospholipid antibody].