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    Research 811–840 of 1000+

    1. 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
    2. Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations European Journal of Human Genetics · 2023 · 5 citations
    3. Deimination in epidermal barrier and hair formation Philosophical transactions - Royal Society. Biological sciences · 2023 · 2 citations
    4. 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
    5. RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS 2017 · 2 citations
    6. Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome Journal of pediatric & adolescent gynecology · 2019 · 1 citations
    7. 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum Journal of Investigative Dermatology · 2025
    8. Gene Variant in Amish a Clue to Better Aging Genetic engineering & biotechnology news · 2018
    9. Abstract 4385: Live-imaging the interface between homeostasis and cancer initiation Cancer research · 2016
    10. Editors' Picks Journal of Investigative Dermatology · 2010
    11. Matriptase-2, A Novel Suppressor of Hepcidin. Blood · 2009
    12. INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS 2008
    13. Research Snippets British Journal of Dermatology · 2005
    14. The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep Agritrop (Cirad) · 2002
    15. A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice. Proceedings of the National Academy of Sciences · 1996 · 89 citations
    16. Defective control of growth rate and cell diameter in tip-growing root hairs of the<i>rhd4</i>mutant of<i>Arabidopsis thaliana</i> Canadian Journal of Botany · 1999 · 26 citations
    17. Early Dengue Virus Infection in Human Skin: A Cycle of Inflammation and Infectivity Journal of Investigative Dermatology · 2015 · 6 citations
    18. 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin 2019
    19. <i>Hoxc13</i> mutant mice lack external hair Genes & Development · 1998 · 245 citations
    20. <i>AXR3</i>and<i>SHY2</i>interact to regulate root hair development Development · 2003 · 157 citations
    21. Disorders linked to insufficient androgen action in male children Human reproduction update · 2001 · 111 citations
    22. Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency 2014 · 64 citations
    23. Natural potent androgens: Lessons from human genetic models Baillière s Clinical Endocrinology and Metabolism · 1998 · 60 citations
    24. The keratins and their disorders American journal of medical genetics. Part C, Seminars in medical genetics · 2004 · 53 citations
    25. Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma The Journal of Pathology · 2007 · 50 citations
    26. Structural insights into SARS-CoV-2 spike protein and its natural mutants found in Mexican population Scientific Reports · 2021 · 44 citations
    27. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex International Journal of Molecular Sciences · 2021 · 40 citations
    28. 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review Hormones · 2018 · 39 citations
    29. A kindred with mutant IKAROS and autoimmunity Journal of Allergy and Clinical Immunology · 2018 · 37 citations
    30. Lanceolate hair-J (<i>lah<sup>J</sup> </i> ): A mouse model for human hair disorders Experimental dermatology · 2000 · 37 citations