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Research 121–150 of 1000+
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype
- Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
- Spatiotemporal Expression and Haplotypes Identification of KRT84 Gene and Their Association with Wool Traits in Gansu Alpine Fine-Wool Sheep
- The genetics of autism and steroid-related traits in prenatal and postnatal life
- Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza
- Comparative genome analyses reveal the unique genetic composition and selection signals underlying the phenotypic characteristics of three Chinese domestic goat breeds
- From bedside to bench: regulation of host factors in SARS-CoV-2 infection
- Seasonal Variability in Transcript Expression of Type I and Type II Keratins in Wool Follicles of Lustrous Fleece-Producing Magra Sheep
- A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
- Acute Localised Exanthematous Pustulosis
- HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond
- Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
- 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
- Ehlers-Danlos syndrome: From bedside to bench
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
- Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
- Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
- Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
- SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
- Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
- The Genetics of Acne
- Genetically separable determinants of hair keratin gene expression
- Male infertility and genitourinary birth defects: there is more than meets the eye
- Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
- Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay