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Research 61–90 of 1000+
- Heterozygous deletion of the <i>NSDHL</i> gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
- Kin‐cohort analysis of <i>LRRK2</i>‐G2019S penetrance in Parkinson's disease
- Informàtica i Dret penal: Els delictes relatius a la informàtica
- Exome analysis for Cronkhite-Canada syndrome: A case report
- Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling
- The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
- 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation
- Interleukin gene polymorphisms and alopecia areata: A systematic review and meta-analysis
- Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
- Genome-based analysis of the genetic pattern of black sheep in Qira sheep
- CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
- Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
- A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
- Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient
- Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review
- Table 1_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
- A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene
- SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
- Upregulation of interfollicular epidermal and hair infundibulum β-catenin expression in Gsdma3 mutant mice
- Clinical analysis of 78 patients with non-classical 21-hydroxylase deficiency
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome K<sub>ATP</sub>Channel Mutations in Intact Cells
- Autosomal recessive hereditary hypotrichosis simplex: A case report
- Exploiting molecular genetic diagnoses of polycystic ovary syndrome to achieve better patient outcome
- Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
- Correlation analysis of four KRTAP gene polymorphisms and cashmere fiber diameters in two cashmere goat breeds
- Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
- Correlation Analysis of BLTP1 (KIAA1109) and KIF27 Gene Polymorphisms with Wool Traits in Subo Merino Sheep
- Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
- Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets