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Research 31–60 of 202
- A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
- Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
- Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency
- Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
- Recently Identified Forms of Epidermolysis Bullosa
- Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep
- Rare and common genetic determinants of metabolic individuality and their effects on human health
- A powerful method for pleiotropic analysis under composite null hypothesis identifies novel shared loci between Type 2 Diabetes and Prostate Cancer
- Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
- Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
- Sequence Variation in Caprine KRTAP6-2 Affects Cashmere Fiber Diameter
- Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
- Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
- A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
- Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia
- Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne
- A Case Report of Werner’s Syndrome With a Novel Mutation From India
- Genetic basis of polycystic ovary syndrome
- BH02 Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with the <i>AIRE</i> gene mutation treated with ruxolitinib
- A Case Report and a Review of TRAPPC4‐Related TRAPPopathy
- Autosomal recessive hereditary hypotrichosis simplex: A case report
- A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
- Ehlers-Danlos syndrome: From bedside to bench
- Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
- 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