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Research 181–210 of 201
- A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
- Ptosis in childhood
- Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
- Mesenchymal cell replacement corrects thymic hypoplasia in murine models of 22q11.2 deletion syndrome
- MAIT Cells in COVID-19: Heroes, Villains, or Both?
- Limb amputations; etiopathogenesis, diagnosis and the multidisciplinary therapeutic approach
- Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
- Amphiregulin in Fibrotic Diseases and Cancer
- Amphiregulin in Fibrotic Diseases and Cancer
- Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion
- Barrett's esophagus as a premalignant condition; medical and surgical therapeutic management
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- Outcomes of paediatric patients with chronic liver disease in early adulthood: A heterogeneous, but representative, regional cohort study
- Adverse events of the thyroid peroxidase inhibitor methimazole in the treatment of hyperthyroidism: a comprehensive analysis from the first quarter of 2004 to the first quarter of 2025
- Genetics of infertility and “assisted fertilization” in the Bible: The case of Abraham and his family
- Netherton Syndrome – Responding to Oral Retinoids
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
- Postoperative complicated appendectomy revealing Crohn’s disease in a pediatric patient
- Toxic and Metabolic Disorders of the Nervous System
- Mining and analysis of adverse event signals of isotretinoin based on the real-world data of FAERS database
- Effects of Exercise Combined with Finasteride on Hormone and Ovarian Function in Polycystic Ovary Syndrome Rats
- Androgen Action in the Ovary
- The role of aquaporins in polycystic ovary syndrome – A way towards a novel drug target in PCOS
- Higher androgen and estrogen output and less follicular atresia can be induced in healthy ovaries by culturing them with sera from PCOS patients: is PCOS really of intraovarian origin?
- Evaluation of the 5α-reductase inhibitor finasteride on reproduction and gonadal development in medaka, Oryzias latipes
- To grow or not to grow: Hair morphogenesis and human genetic hair disorders
- Ameliorative effects of rutin against metabolic, biochemical and hormonal disturbances in polycystic ovary syndrome in rats
- Skin and hair: models for exploring organ regeneration
- Alopecia in Epidermolysis Bullosa