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    Research 391–420 of 447

    1. Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes American Journal of Medical Genetics Part A · 2021 · 16 citations
    2. Comprehensive analysis of the expression profiles of mRNA, lncRNA, circRNA, and miRNA in primary hair follicles of coarse sheep fetal skin BMC Genomics · 2024 · 13 citations
    3. Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats Journal of Investigative Dermatology Symposium Proceedings · 2005 · 13 citations
    4. An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature 2018 · 10 citations
    5. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene Journal of Pediatric Endocrinology and Metabolism · 2014 · 10 citations
    6. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation American journal of ophthalmology. Case reports · 2017 · 9 citations
    7. A review of genotrichoses and hair pathology associated with inherited skin diseases British Journal of Dermatology · 2023 · 8 citations
    8. Atrichia with papular lesions International journal of trichology · 2011 · 8 citations
    9. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    10. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics · 2022 · 6 citations
    11. Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention Photodermatology Photoimmunology & Photomedicine · 2020 · 6 citations
    12. Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome Frontiers in Genetics · 2022 · 5 citations
    13. Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease PloS one · 2019 · 5 citations
    14. Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings 2017 · 5 citations
    15. Differential expression of KRT83 regulated by the transcript factor CAP1 in Chinese Tan sheep Gene · 2017 · 5 citations
    16. Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia Children · 2023 · 4 citations
    17. 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
    18. Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion Journal of Clinical Medicine · 2021 · 4 citations
    19. Double mutation of <i>claudin‐1</i> and <i>claudin‐3</i> causes alopecia in infant mice Annals of the New York Academy of Sciences · 2023 · 3 citations
    20. Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development Asian Journal of Andrology · 2024 · 2 citations
    21. Reply Journal of Investigative Dermatology · 2000 · 2 citations
    22. Variation in the Exon 3–4 Region of Ovine KRT85 and Its Effect on Wool Traits Animals · 2024 · 1 citations
    23. Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Frontiers in Genetics · 2023 · 1 citations
    24. Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports Journal of neuroendocrinology · 2023 · 1 citations
    25. The Mechanisms of Fur Development and Color Formation in American Mink Revealed Using Comparative Transcriptomics Animals · 2022 · 1 citations
    26. Abstracts from the 4th Annual Student Medical Summit BMC Proceedings · 2021 · 1 citations
    27. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    28. Reply Journal of Investigative Dermatology · 2000 · 1 citations
    29. Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report Genes · 2026
    30. Risk factors for androgenetic alopecia: a systematic review and meta-analysis BMC Public Health · 2026