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Research 181–210 of 1000+
- Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
- A powerful method for pleiotropic analysis under composite null hypothesis identifies novel shared loci between Type 2 Diabetes and Prostate Cancer
- A Case Report of Werner’s Syndrome With a Novel Mutation From India
- Thehairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype
- Update on Frontal Fibrosing Alopecia
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
- Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
- 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
- Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia
- Hunting the genes in male‐pattern alopecia: how important are they, how close are we and what will they tell us?
- Interactions of the Vitamin D Receptor with the Corepressor Hairless
- Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
- What does acne genetics teach us about disease pathogenesis?
- Diagnostic approach to low‐renin hypertension
- ALOPECIA AREATA-A CLINICAL ANALYSIS
- Genetic, hormonal and metabolic aspects of PCOS: an update
- The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
- Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations
- Nonclassic adrenal hyperplasia
- Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
- Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
- DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
- Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
- Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
- An epistatic effect of KRT25 on SP6 is involved in curly coat in horses
- Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
- Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data
- The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Association between PITX2 polymorphism and androgenetic alopecia in the Indian population