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    Research 181–210 of 485

    1. PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene Indian Journal of Dermatology Venereology and Leprology · 2023 · 2 citations
    2. SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder Cell · 2010 · 260 citations
    3. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex International Journal of Molecular Sciences · 2021 · 40 citations
    4. 545 Skin Organoids derived from NCSTN mutated patient-induced pluripotent stem cells recapitulate Hidradenitis Suppurativa pathogenic hallmarks 2022
    5. Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency Journal of Investigative Dermatology · 2014 · 24 citations
    6. Recently Identified Forms of Epidermolysis Bullosa 2015 · 39 citations
    7. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    8. Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review Frontiers in Medicine · 2025
    9. Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies 2021 · 9 citations
    10. The accelerated aging skin in rhino‐like SHJH<sup><i>hr</i></sup> mice Experimental dermatology · 2022 · 1 citations
    11. Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report Genes · 2026
    12. Nonclassic adrenal hyperplasia Reviews in endocrine and metabolic disorders · 2008 · 55 citations
    13. https://researchopenworld.com/genetics-of-hidradenitis-suppurativa/# 2020
    14. GAPO syndrome – Report of a rare case and review Indian Journal of Case Reports · 2024 · 1 citations
    15. Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia The New England Journal of Medicine · 2019 · 95 citations
    16. Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports Journal of neuroendocrinology · 2023 · 1 citations
    17. A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome American journal of medical genetics. Part A · 2023
    18. Learning from nudity: lessons from the nude phenotype Experimental Dermatology · 2005 · 86 citations
    19. To grow or not to grow: Hair morphogenesis and human genetic hair disorders Seminars in Cell & Developmental Biology · 2013 · 43 citations
    20. <i>WNT10A</i> , dermatology and dentistry British Journal of Dermatology · 2021 · 30 citations
    21. Genetics of Structural Hair Disorders Journal of Investigative Dermatology · 2012 · 17 citations
    22. Alopecia areata in a rhesus monkey (Macaca mulatta) Journal of Medical Primatology · 2007 · 16 citations
    23. Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings 2017 · 5 citations
    24. Le gène<i>hairless</i>de la souris 2006 · 4 citations
    25. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    26. Keratin disorders: from gene to therapy 2011 · 109 citations
    27. A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions Human Genetics · 2019 · 10 citations
    28. Uncombable hair syndrome and beyond Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.) · 2022
    29. Genetically separable determinants of hair keratin gene expression Developmental Dynamics · 2000 · 27 citations
    30. Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance Hormones · 2016 · 15 citations