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    Research 781–810 of 1000+

    1. Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency The Journal of Clinical Endocrinology and Metabolism · 2008 · 81 citations
    2. Angora Mouse Mutation: Altered Hair Cycle, Follicular Dystrophy, Phenotypic Maintenance of Skin Grafts, and Changes in Keratin Expression Veterinary Pathology · 1997 · 69 citations
    3. Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function Endocrinology · 2004 · 67 citations
    4. A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification 2002 · 66 citations
    5. STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity Orphanet Journal of Rare Diseases · 2014 · 65 citations
    6. A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2005 · 33 citations
    7. A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis Mammalian genome · 2009 · 21 citations
    8. Histopathology of Hypotrichosis with Juvenile Macular Dystrophy The American Journal of Dermatopathology · 2004 · 19 citations
    9. The disrupted balance between hair follicles and sebaceous glands in<i>Hoxc13</i>‐ablated rabbits ˜The œFASEB journal · 2018 · 18 citations
    10. Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan Genes · 2016 · 9 citations
    11. Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Hormone Research in Paediatrics · 2016 · 8 citations
    12. Siberian cats help in solving part of the mystery surrounding golden cats Animal Genetics · 2021 · 7 citations
    13. <i>NIPAL4</i> deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy Veterinary medicine and science · 2019 · 7 citations
    14. Genetic variants in AR and SHBG and resistance to hormonal castration in prostate cancer Medical Oncology · 2013 · 6 citations
    15. Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes 2017 · 4 citations
    16. Azathioprine‐induced severe myelosuppression accompanied by massive hair loss and painful oral ulcer in an autoimmune hepatitis patient with <i>NUDT15</i> minor variant: A case report Clinical Case Reports · 2021 · 3 citations
    17. Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review Frontiers in Pharmacology · 2023 · 1 citations
    18. A Newborn With Hair Loss Clinical pediatrics · 2013 · 1 citations
    19. IRF2BP2 genes provide new insights into coat type and fiber composition variation in sheep Small Ruminant Research · 2026
    20. 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
    21. A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease Turkish Journal of Cerebrovascular Diseases · 2025
    22. P56 Azathioprine-induced alopecia totalis and knuckle hyperpigmentation in a child with uveitis: test before you leap! Rheumatology Advances in Practice · 2024
    23. LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome Journal of Investigative Dermatology · 2024
    24. The Naked (N) Mutation, Chromosome 15 2020
    25. 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin 2019
    26. A direct link between<i>Prss53</i>, hair curvature, and skeletal dysplasia bioRxiv (Cold Spring Harbor Laboratory) · 2019
    27. Claudin tight junctionwhat's your function? The role of Claudin 6 in epidermal and hair follicle differentiation uO Research (University of Ottawa) · 2004
    28. A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome AACE Clinical Case Reports · 2015 · 1 citations
    29. Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation Journal of dermatological science · 2016
    30. Analysis of differentially expressed genes of dermal papillae cells with aggregative behavior in uitro China Practical Medicine · 2009