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Research 61–90 of 101
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
- Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza
- Expanding the Scope of a Dynamic Perspective on Positive Adolescent Sexual Development
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- HR Gene Variants Identified in Mexican Patients with Alopecia Areata
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
- Skin image analysis for detection and quantitative assessment of dermatitis, vitiligo and alopecia areata lesions: a systematic literature review
- A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
- Skin and Scalp Health Benefits of a Specific Botanical Extract Blend: Results from a Double-Blind Placebo-Controlled Study in Urban Outdoor Workers
- Multi-omics and AI-driven advances in miRNA-mediated hair follicle regulation in cashmere goats
- Exome analysis for Cronkhite-Canada syndrome: A case report
- High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
- Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin
- A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
- Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
- Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
- Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
- Keeping Our Eye on the Ball: The American Society of Preventive Oncology in 2009
- Potential Cosmetic Applications of Dihydroartemisinin
- 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
- Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
- A Mosaic Hotspot <i>PLCD1</i> Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus
- Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
- 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
- 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
- A Case of Delusional Parasitosis Secondary to Severe Iron Deficiency Anaemia in a Tertiary Care Hospital: An Area for Clinical Vigilance