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    Research 151–180 of 446

    1. The Critical Roles of Serum/Glucocorticoid-Regulated Kinase 3 (SGK3) in the Hair Follicle Morphogenesis and Homeostasis American Journal of Pathology · 2006 · 9 citations
    2. Hairless controls hair fate decision via Wnt/β–catenin signaling Biochemical and Biophysical Research Communications · 2017 · 6 citations
    3. Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis Frontiers in Medicine · 2025
    4. Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype PLOS genetics · 2019 · 24 citations
    5. Editors' Picks Journal of Investigative Dermatology · 2007
    6. Inherited Epidermolysis Bullosa: A Clinical Case Medical journal of clinical trials & case studies · 2020
    7. Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment Scientific Reports · 2024 · 13 citations
    8. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    9. Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature International journal of immunopathology and pharmacology · 2015 · 6 citations
    10. Keratins and skin disease 2015 · 69 citations
    11. Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ 2012 · 44 citations
    12. 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum Journal of Investigative Dermatology · 2025
    13. Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair Nature genetics · 2008 · 210 citations
    14. 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review Hormones · 2018 · 39 citations
    15. An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature 2018 · 10 citations
    16. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics · 2022 · 6 citations
    17. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study Arquivos Brasileiros de Oftalmologia · 2017 · 5 citations
    18. 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
    19. SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder Cell · 2010 · 260 citations
    20. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex International Journal of Molecular Sciences · 2021 · 40 citations
    21. 545 Skin Organoids derived from NCSTN mutated patient-induced pluripotent stem cells recapitulate Hidradenitis Suppurativa pathogenic hallmarks 2022
    22. Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency Journal of Investigative Dermatology · 2014 · 24 citations
    23. Recently Identified Forms of Epidermolysis Bullosa 2015 · 39 citations
    24. The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome Case reports in genetics · 2015 · 7 citations
    25. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    26. 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
    27. Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies 2021 · 9 citations
    28. The accelerated aging skin in rhino‐like SHJH<sup><i>hr</i></sup> mice Experimental dermatology · 2022 · 1 citations
    29. Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report Genes · 2026
    30. Nonclassic adrenal hyperplasia Reviews in endocrine and metabolic disorders · 2008 · 55 citations