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Research 571–600 of 1000+
- Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
- Gender-Difference in Hair Length as Revealed by Crispr-Based Production of Long-Haired Mice with Dysfunctional FGF5 Mutations
- Severe metabolic disorders coexisting with Werner syndrome: a case report
- Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
- Pitfalls of PCR-Based Strategy for Genotyping <i>Cre-Loxp</i> Mice
- Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome
- Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
- A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
- Association between <i>VEGF</i> gene polymorphisms (11 sites) and polycystic ovary syndrome risk
- Hormonal profile and androgen receptor study in prepubertal girls with hypertrichosis
- Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
- Hub biomarkers in ultrasound-guided bladder cancer and osteosarcoma: Myosin light chain kinase and caldesmon
- Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
- A Founder Mutation in the <i>POMC</i> 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
- Monilethrix
- Osteopontin Gene Polymorphisms rs1126616 C>T and rs1126772 A>G are Associated with Atopic Dermatitis in Polish Population
- Tissue Regeneration, Stem Cells, and Wound Healing
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- Exome analysis for Cronkhite-Canada syndrome: A case report
- Promoter Methylation Changes in KRT17: A Novel Epigenetic Marker for Wool Production in Angora Rabbit
- RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
- Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu <i>LMNA</i> mutation and in their asymptomatic heterozygotic mothers
- Hair follicle epithelial stem cells contribute to interfollicular epidermis during homeostasis
- Steatocystoma Multiplex
- Large-Scale, Multicenter, Prospective Registry Study of Ripretinib in Advanced GIST: A Real-World Study from China
- The Fraser Complex Proteins (Frem1, Frem2, and Fras1) Can Form Anchoring Cords in the Absence of AMACO at the Dermal–Epidermal Junction of Mouse Skin
- Regulation of feather follicle development and Msx2 gene SNP degradation in Hungarian white goose
- NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
- Analysis of R199H Polymorphism of Canine Melanophilin Gene (MLPH) in Population of Czech Pointer in Slovakia
- Discovery of Four New<em> FGF5</em> Variants Causing Long Hair in the Dog