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Research 31–60 of 82
- Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- Combination Therapies and the Theoretical Limits of Evidence-Based Medicine
- A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
- LOOSE ANAGEN SYNDROME AND LOOSE ANAGEN HAIR
- Modeling cell–cell communication for immune systems across space and time
- Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
- Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
- Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
- The Dermatology Life Quality Index (DLQI) used as the benchmark in validation of 101 quality‐of‐life instruments: A systematic review
- An epistatic effect of KRT25 on SP6 is involved in curly coat in horses
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
- Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza
- An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
- Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
- Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- HR Gene Variants Identified in Mexican Patients with Alopecia Areata
- Novel <i>KRT83</i> and <i>KRT86</i> mutations associated with monilethrix
- Semidominant Inheritance in Epidermolytic Ichthyosis
- Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
- Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin
- A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
- Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
- A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome
- RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
- STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome