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    Research 961–990 of 1000+

    1. Atrichia with papular lesions resulting from mutations in the rhesus macaque (<i>Macaca mulatta</i>) <i>hairless</i> gene Laboratory Animals · 2002 · 20 citations
    2. Nuclear Localization of STAT5A Modified with O-Linked N-Acetylglucosamine and Early Involution in the Mammary Gland of Hirosaki Hairless Rat Journal of Biological Chemistry · 2005 · 17 citations
    3. Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica 2010 · 16 citations
    4. Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia American Journal of Human Genetics · 2001 · 14 citations
    5. Central nervous system involvement in autoimmune polyglandular syndrome Clinical neurology and neurosurgery · 2003 · 10 citations
    6. Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene Endocrine · 2011 · 8 citations
    7. Severe metabolic disorders coexisting with Werner syndrome: a case report Endocrine journal · 2020 · 6 citations
    8. 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
    9. Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome Frontiers in Genetics · 2022 · 5 citations
    10. Exploring the efficacy of testosterone undecanoate in male children with 5α‐reductase deficiency Pediatric investigation · 2021 · 5 citations
    11. Congenital atrichia associated with situs inversus and mesocardia International journal of trichology · 2012 · 5 citations
    12. A Founder Mutation in the <i>POMC</i> 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA The Journal of Clinical Endocrinology & Metabolism · 2022 · 4 citations
    13. Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family Journal of clinical laboratory analysis · 2021 · 4 citations
    14. Werner's syndrome: incidental finding during pregnancy BMJ case reports · 2013 · 1 citations
    15. Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report Clinical Case Reports · 2026
    16. MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2 Journal of the Endocrine Society · 2025
    17. Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Tour&#233; University Hospital Open journal of pediatrics · 2023
    18. A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus Experimental and Clinical Endocrinology & Diabetes · 2012
    19. Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient Molecular genetics & genomic medicine · 2021 · 3 citations
    20. Muir-torre syndrome in two families in Leicestershire, United Kingdom Journal of the American Academy of Dermatology · 2005
    21. 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24 2017
    22. Topical niacinamide 4% and desonide 0.05% for treatment of axillary hyperpigmentation: a randomized, double-blind, placebo-controlled study Clinical Cosmetic and Investigational Dermatology · 2013 · 40 citations
    23. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene <i>LIPH</i> Science · 2006 · 194 citations
    24. Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management. PubMed · 2022 · 188 citations
    25. FGF5 is a crucial regulator of hair length in humans Proceedings of the National Academy of Sciences of the United States of America · 2014 · 136 citations
    26. Biotinidase Deficiency: Prevalence, Impact And Management Strategies. PubMed · 2020 · 89 citations
    27. Causes and Management of Hypertrichosis American Journal of Clinical Dermatology · 2002 · 61 citations
    28. Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting 2013 · 46 citations
    29. The nude gene and the skin Experimental Dermatology · 2001 · 41 citations
    30. Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions Journal of Investigative Dermatology · 2003 · 23 citations