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Research 181–210 of 1000+
- Gender-Difference in Hair Length as Revealed by Crispr-Based Production of Long-Haired Mice with Dysfunctional FGF5 Mutations
- Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
- Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
- Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
- MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
- <i>WNT10A</i> gene variants at the root of short anagen hair syndrome
- Identification of the Keratin-Associated Protein 22-2 Gene in the Capra hircus and Association of Its Variation with Cashmere Traits
- Regulation of feather follicle development and Msx2 gene SNP degradation in Hungarian white goose
- Successful use of topical minoxidil in the treatment of hypotrichosis associated with desmoplakin mutations
- CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
- <i>CCDC47</i> gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
- The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
- Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report
- 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation
- Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation
- 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
- Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
- Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
- Gene detection in a family with monilethrix and observation of the treatment effect with 5% topical minoxidil
- Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
- Identification of novel mutation in the<i>HR</i>gene responsible for atrichia with papular lesions in a Pakistani family
- Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination
- [Molecular cloning of full-long cDNA sequences encoding hairless gene in the Kunming mouse].
- An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu <i>LMNA</i> mutation and in their asymptomatic heterozygotic mothers
- A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
- Impact of mutations in PRLR for hair weight, circulating prolactin concentrations, feed intake, and growth of beef cattle in a hot and humid climate