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Research 211–240 of 1000+
- The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
- Genome-wide DNA methylation and transcriptome analyses reveal the key gene for wool type variation in sheep
- A computationally inferred regulatory heart aging model including post-transcriptional regulations
- Genome-Wide Identification and Characterization of the Wnt Gene Family in Donkey (Equus asinus): Phylogenetic Analysis and Expression Profiling
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
- Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
- A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene
- A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
- A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome
- Severe Hypernatremia as Presentation of Netherton Syndrome
- Bioinformatic analysis of gene expression data reveals Src family protein tyrosine kinases as key players in androgenetic alopecia
- In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
- 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
- Nonclassic adrenal hyperplasia
- The Molecular Basis of Androgen Insensitivity
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
- Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
- Whole Genome Scan and Selection Signatures for Climate Adaption in Yanbian Cattle
- Folliculin encoded by the <i>BHD</i> gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling
- Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
- Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
- Learning from nudity: lessons from the nude phenotype
- A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
- A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
- HRT for women with premature ovarian insufficiency: a comprehensive review
- The slick hair coat locus maps to chromosome 20 in Senepol-derived cattle
- Polymorphisms in the Human High Sulfur Hair Keratin-associated Protein 1, KAP1, Gene Family
- Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
- Identification and dissection of an enhancer controlling epithelial gene expression in skin