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    Research 241–270 of 1000+

    1. Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: a case report Clinical Pediatric Endocrinology · 2025
    2. Variation in Ovine KRTAP13-3 and Its Association with Wool Characteristics in Chinese Tan Sheep Animals · 2025 · 1 citations
    3. Medication-induced hair loss: An update Journal of the American Academy of Dermatology · 2023 · 1 citations
    4. [Striatal involvement on MRI in adrenomyeloneuropathy]. PubMed · 1991 · 1 citations
    5. A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2017 · 33 citations
    6. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    7. P56 Azathioprine-induced alopecia totalis and knuckle hyperpigmentation in a child with uveitis: test before you leap! Rheumatology Advances in Practice · 2024
    8. Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report American Journal of Case Reports · 2025
    9. Ehlers-Danlos syndrome: From bedside to bench Frontiers research topics · 2024
    10. A kindred with mutant IKAROS and autoimmunity Journal of Allergy and Clinical Immunology · 2018 · 37 citations
    11. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012 · 22 citations
    12. The Search for the Causes of Common Hyperandrogenism, 1965 to Circa 2015 Endocrine Reviews · 2024 · 10 citations
    13. Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study African Journal of Urology · 2023 · 4 citations
    14. The Mean Staple Length of Wool Fibre Is Associated with Variation in the Ovine Keratin-Associated Protein 21-2 Gene Genes · 2020 · 4 citations
    15. 8507 Misdiagnosis of Graves’ and RAI Treatment in Patient with THRB Gene Mutation Journal of the Endocrine Society · 2024
    16. Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations Indian Journal of Paediatric Dermatology · 2022
    17. Strategies for High-Efficiency Mutation Using the CRISPR/Cas System Frontiers in Cell and Developmental Biology · 2022 · 29 citations
    18. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) Orphanet Journal of Rare Diseases · 2022 · 8 citations
    19. Immune mechanisms associated with sex-based differences in severe COVID-19 clinical outcomes Biology of Sex Differences · 2022 · 52 citations
    20. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles Journal of Investigative Dermatology · 2016 · 50 citations
    21. Characterisation of an Ovine Keratin Associated Protein (KAP) Gene, Which Would Produce a Protein Rich in Glycine and Tyrosine, but Lacking in Cysteine Genes · 2019 · 24 citations
    22. Genome-wide association study for cashmere traits in Inner Mongolia cashmere goat population reveals new candidate genes and haplotypes BMC Genomics · 2024 · 13 citations
    23. Clinical Manifestations of Hyperandrogenism and Ovulatory Dysfunction Are Not Associated with His1058 C/T SNP (rs1799817) Polymorphism of Insulin Receptor Gene Tyrosine Kinase Domain in Kashmiri Women with PCOS International Journal of Endocrinology · 2021 · 6 citations
    24. Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease PloS one · 2019 · 5 citations
    25. Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family Journal of clinical laboratory analysis · 2021 · 4 citations
    26. SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature Pigment Cell & Melanoma Research · 2025 · 1 citations
    27. 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 Biomedicines · 2025
    28. A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia Journal of Investigative Dermatology · 2002 · 26 citations
    29. Investigation of the association of the MLPH gene with seasonal canine flank alopecia in Rhodesian Ridgeback dogs Canine Medicine and Genetics · 2024 · 1 citations
    30. Glutathione S-transferase gene polymorphism, total antioxidant status, and blood pressure changes in androgenic alopecia Anadolu Kliniği Tıp Bilimleri Dergisi · 2025