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Research 271–300 of 1000+
- The Immunological Impact of IL-1 Family Cytokines on the Epidermal Barrier
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
- Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review
- Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- Androgenetische Alopezie
- Challenges in treatment of patients with non-classic congenital adrenal hyperplasia
- A Founder Mutation in the <i>POMC</i> 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
- Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
- Acrodermatitis enteropathica in the pediatric population: a literature review of real-world studies
- Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
- Hormonal and Genetic Etiology of Male Androgenetic Alopecia
- Rethinking the Occipital Scalp as a Control in Advanced Androgenetic Alopecia
- An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
- Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency
- Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development
- Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
- Association of Acne Tarda with Endocrinological Disorders
- The Role of Nrf2 in Hearing Loss
- Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome
- Autosomal recessive monilethrix: Novel variants of the <i>DSG4</i> gene in three Chinese families
- A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
- Genetically Altered Expression of Spermidine/Spermine N1-Acetyltransferase Affects Fat Metabolism in Mice via Acetyl-CoA
- Disturbance of the Circadian System in Shift Work and Its Health Impact
- Diseases associated with hidranitis suppurativa: part 2 of a series on hidradenitis
- Critical Analysis on Characterization, Systemic Effect, and Therapeutic Potential of Beta-Sitosterol: A Plant-Derived Orphan Phytosterol
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia