Search
for

    Sort by

    Research 211–240 of 1000+

    1. Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations Journal of Clinical Immunology · 2021 · 30 citations
    2. Ulerythema ophryogenes with multiple congenital anomalies Journal of the American Academy of Dermatology · 1988 · 27 citations
    3. Polycystic ovary syndrome and the differential diagnosis of hyperandrogenism The obstetrician & gynaecologist · 2013 · 19 citations
    4. Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up Chinese Medical Journal · 2006 · 16 citations
    5. The eye and the skin in endocrine metabolic diseases Clinics in Dermatology · 2015 · 10 citations
    6. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2 2022 · 8 citations
    7. The distribution of Preputial vessels in different severity of rat congenital hypospadias model: imaging study using micro-computerized tomography BMC urology · 2019 · 2 citations
    8. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 Revista Paulista de Pediatria · 2023
    9. Congenital adrenal hyperplasia with polycystic ovarian disease: A rare cause of hirsutism Journal of Pakistan Association of Dermatologists · 2016
    10. Halo Scalp Ring: An Annular Alopecia Associated with Birth Injury Annals of Dermatology · 2023 · 2 citations
    11. Pili Torti: A Feature of Numerous Congenital and Acquired Conditions Journal of clinical medicine · 2021 · 9 citations
    12. An unusual circulating steroid profile in a virilized postmenopausal woman Diagnosis · 2018 · 2 citations
    13. Bachmann–Bupp syndrome and treatment 2023
    14. Approach to Investigation of Hyperandrogenism in a Postmenopausal Woman The Journal of Clinical Endocrinology and Metabolism · 2022
    15. A Novel Mouse Type I Intermediate Filament Gene, Keratin 17n (K17n), Exhibits Preferred Expression in Nail Tissue Journal of Investigative Dermatology · 2004 · 31 citations
    16. Schmallenberg virus infection suspected in a calf born to an imported heifer 2021
    17. FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program Frontiers in Immunology · 2013 · 69 citations
    18. Polycystic Ovary Syndrome and NC-CAH: Distinct Characteristics and Common Findings. A Systematic Review Frontiers in Endocrinology · 2019 · 32 citations
    19. Mammalian-specific ectodermal enhancers control the expression of <i>Hoxc</i> genes in developing nails and hair follicles Proceedings of the National Academy of Sciences · 2020 · 25 citations
    20. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice PLOS genetics · 2020 · 23 citations
    21. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    22. Ptosis in childhood Medicine · 2018 · 15 citations
    23. Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide Veterinary Dermatology · 2024
    24. Voice changes in reproductive disorders, thyroid disorders and diabetes: a review Endocrine connections · 2022
    25. Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14 Frontiers in Medicine · 2026
    26. Birth Outcomes of Infants Born to Mothers with Alopecia Areata: A Nationwide Population-based Study in Korea Acta Dermato Venereologica · 2025
    27. Hair follicle dystrophy in a litter of domestic cats resembling lanceolate hair mutant mice Veterinary dermatology · 2021 · 3 citations
    28. From the Elephant Man to Barbie Girl: Dissecting the Freak from the Margins to the Mainstream 2020
    29. Hair Shaft Dysplasias International Journal of Dermatology · 1988 · 19 citations
    30. Cell Polarization Defects in Early Heart Development Circulation Research · 2007 · 9 citations