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Research 481–510 of 1000+
- Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
- An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
- Design, Synthesis and Evaluation of N13-Substituted Evodiamine Derivatives against Human Cancer Cell Lines
- Multi-omics empowered deep phenotyping of ulcerative colitis
- 1446 RNase L acts as a regeneration suppressor
- Decision letter: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
- Actualités du SOPK
- 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
- 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
- Comparative Analysis of Chloroplast Genomes in Sansevieria Reveals Phylogenetic Relationships and High Variability Molecular Markers
- 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