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Research 121–150 of 186
- Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review
- The Peach RGF/GLV Signaling Peptide pCTG134 Is Involved in a Regulatory Circuit That Sustains Auxin and Ethylene Actions
- Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
- A review of genotrichoses and hair pathology associated with inherited skin diseases
- Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
- Comparison of the acute ultraviolet photoresponse in congenic albino hairless C57BL/6J mice relative to outbred SKH1 hairless mice
- Identification of key genes and signaling pathways related to Hetian sheep wool density by RNA-seq technology
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- A novel 22-bp InDel within <i>FGF7</i> gene is significantly associated with growth traits in goat
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- Biotin Is Required for the Zinc Homeostasis in the Skin
- Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
- Genetic targeting of lymphatic endothelial cells in mice: current strategies and future perspectives
- Selection signatures for fiber production in commercial species: A review
- Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous
- Testing the impact of trait prevalence priors in Bayesian-based genetic prediction modeling of human appearance traits
- A study on efficacy of oral zinc therapy for treatment of acrodermatitis enteropathica
- Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
- Ovine KRT81 Variants and Their Influence on Selected Wool Traits of Commercial Value
- The idiosyncratic genome of Korean long-tailed chicken as a valuable genetic resource
- Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
- A Founder Mutation in the <i>POMC</i> 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
- Dyslipidaemia in women with polycystic ovary syndrome referred to a teaching hospital in Cape Town, South Africa
- Abstracts
- Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage
- Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits
- Co-expression of PADI isoforms during progenitor differentiation enables functional diversity
- Polycystic ovary syndrome and iron overload: biochemical link and underlying mechanisms with potential novel therapeutic avenues
- Genomic and Transcriptomic Characterization of Atypical Recurrent Flank Alopecia in the Cesky Fousek
- Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome