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Research 30 of 612
- Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer
- Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
- CPC12 Coinheritance of <i>BRCA2</i> and <i>CYLD</i> germline pathogenic variants associated with targetable metastatic malignant cylindroma
- A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
- GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
- A Mosaic Hotspot <i>PLCD1</i> Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus
- GENOTYPE ? PHENOTYPE CORRELATIONS IN CUTANEOUS MELANOMA PATIENTS CARRIER OF THE MITF p.E318K PATHOGENIC VARIANT
- Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
- 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
- Genetic variants in AR and SHBG and resistance to hormonal castration in prostate cancer
- The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
- Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
- Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
- A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
- Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation
- Androgen Receptor Mutations and Polymorphisms in African American Prostate Cancer
- Androgen Receptor Polymorphism-Dependent Variation in Prostate-Specific Antigen Concentrations of European Men
- Immunological aspects and gender bias during respiratory viral infections including novel Coronavirus disease‐19 (COVID‐19): A scoping review
- De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
- Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
- JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
- MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
- Modeling animal genomics in mice: An authentic approach for the functional interrogation of evolutionarily and agriculturally critical variants
- Environmental Factors and Puberty Timing: Expert Panel Research Needs
- Genetic analysis of the role of androgen metabolism in the pathogenesis of prostate cancer
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters