Search
for
Sort by
Research 31–60 of 1000+
- Post SARS-CoV-2 vaccination effluvium
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
- Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
- The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy
- Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants
- 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
- Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features
- Basal cell carcinomas acquire secondary mutations to overcome dormancy and progress from microscopic to macroscopic disease
- Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
- Abstracts
- A Case Report and a Review of TRAPPC4‐Related TRAPPopathy
- Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
- Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
- Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
- 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
- 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
- Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
- The Rotterdam Study: 2016 objectives and design update
- Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
- Multi-ancestry tandem repeat association study of hair colour using exome-wide sequencing
- Integration Analysis of Transcriptome Sequencing and Whole-Genome Resequencing Reveal Wool Quality-Associated Key Genes in Zhexi Angora Rabbits
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
- Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
- The role of functional variants in the aetiology of polycystic ovary syndrome
- Exploiting molecular genetic diagnoses of polycystic ovary syndrome to achieve better patient outcome
- Correlation analysis of four KRTAP gene polymorphisms and cashmere fiber diameters in two cashmere goat breeds
- Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development
- Líquen plano pilar e alopecia frontal fibrosante: correlação dos achados clínicos e dermatoscópicos com o grau de inflamação do exame histopatológico
- Exome analysis for Cronkhite-Canada syndrome: A case report