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    Research 30 of 225

    1. Acne Syndromes and Mosaicism Biomedicines · 2021 · 1 citations
    2. Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis Annals of Neurology · 2001 · 43 citations
    3. Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia Journal of the American Academy of Dermatology · 1994 · 32 citations
    4. Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case Clinical Genetics · 2004 · 26 citations
    5. Pigmentary mosaicism: An update Indian Journal of Dermatology · 2008 · 7 citations
    6. CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism British Journal of Dermatology · 2025
    7. Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism Authorea (Authorea) · 2022
    8. Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother American Journal of Medical Genetics Part A · 2026
    9. Focal Scalp Hair Heterochromia in an Infant Sultan Qaboos University medical journal · 2017 · 2 citations
    10. A Mosaic Hotspot <i>PLCD1</i> Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus American Journal of Medical Genetics Part A · 2025
    11. Pioneers in Dermatology and Venereology: An interview with Professor Rudolf Happle Journal of the European Academy of Dermatology and Venereology · 2024
    12. Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism AACE clinical case reports · 2021
    13. Congenital Triangular Alopecia Springer eBooks · 2018
    14. Lichen planus pigmentosus and its variants: review and update International Journal of Dermatology · 2017 · 94 citations
    15. Distinct mechanisms underlie pattern formation in the skin and skin appendages Birth Defects Research · 2006 · 25 citations
    16. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    17. Double-Lined Frontoparietal Scleroderma en coup de sabre Dermatology · 1999 · 22 citations
    18. First symposium on natural gene therapy of the skin Experimental dermatology · 2012 · 9 citations
    19. Analogs of human genetic skin disease in domesticated animals International journal of women’s dermatology · 2017 · 3 citations
    20. Embryologic layers in dermatology: Developmental checkpoint disorders, diagnostic insight, and regenerative futures Italian Journal of Anatomy and Embryology · 2025
    21. Unilateral heterochromia of scalp hair with adjacent hypomelanotic skin lesions European Journal of Dermatology · 2019
    22. Phylloid terminal hair nevus: A unique clinical entity Pediatric Dermatology · 2018
    23. Quoi de neuf en dermatologie pédiatrique ? Annales de dermatologie et de vénéréologie · 2017
    24. British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016 British Journal of Dermatology · 2016
    25. Viewpoint 1 Experimental Dermatology · 2006
    26. SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome Journal of the Endocrine Society · 2019
    27. Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes European journal of medical genetics · 2012 · 13 citations
    28. A Clinical Genetics-Driven Dual Diagnosis of Prader–Willi Syndrome Due to Mosaic Maternal UPD(15) and NOTCH3-Related CADASIL Genes · 2026
    29. The Molecular Basis of Androgen Insensitivity Hormone Research in Paediatrics · 2000 · 25 citations
    30. Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection Biomedicines · 2025