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    1. Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes Diabetes · 2011 · 53 citations
    2. Genetic defects of brain immunity in childhood herpes simplex encephalitis Nature · 2024 · 23 citations
    3. Genetic Defects of Female Sexual Differentiation Elsevier eBooks · 2016
    4. Genetic Ablation of the <i>CDP/Cux</i> Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility Molecular and cellular biology · 2002 · 97 citations
    5. A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders Experimental Dermatology · 2026
    6. Genetic Disorders and Defects in Vitamin D Action Endocrinology and metabolism clinics of North America · 2010 · 151 citations
    7. Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII Helda (University of Helsinki) · 2013
    8. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene <i>LIPH</i> Science · 2006 · 194 citations
    9. Skin, Genetic Defects, and Aging SpringerBriefs in bioengineering · 2016
    10. Human hair production by scalp samples grafted onto nude mice. Biochemical data on normal human hair and the genetic defect trichothiodystrophy Journal of Dermatological Science · 1994 · 2 citations
    11. Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development Seminars in reproductive medicine · 2012 · 46 citations
    12. The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects Developmental Dynamics · 2006 · 49 citations
    13. Common genetic hair shaft abnormalities may be visualized by light and electron microscope Global Dermatology · 2019
    14. To grow or not to grow: Hair morphogenesis and human genetic hair disorders Seminars in Cell & Developmental Biology · 2013 · 43 citations
    15. ROOT HAIR DEFECTIVE SIX‐LIKE4 (RSL4) promotes root hair elongation by transcriptionally regulating the expression of genes required for cell growth New phytologist · 2016 · 75 citations
    16. PATHOGENESIS OF GENETIC HUMAN HAIR DISORDERS The Journal of Dermatology · 1981 · 1 citations
    17. Balding: A New Mutation on Mouse Chromosome 18 Causing Hair Loss and Immunological Defects Journal of Heredity · 1994 · 22 citations
    18. Distinguishing Mouse Strains by Proteomic Analysis of Pelage Hair Journal of Investigative Dermatology · 2009 · 34 citations
    19. Clinical Impact of Molecular Diagnostics in Endocrinology Hormone Research in Paediatrics · 2002 · 2 citations
    20. Cornification 2018
    21. 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome Journal of Investigative Dermatology · 2024
    22. Modulating the stem cell niche for tissue regeneration Nature Biotechnology · 2014 · 480 citations
    23. <i>C2orf37</i> mutational spectrum in Woodhouse–Sakati syndrome patients Clinical genetics · 2010 · 43 citations
    24. Scraggly, a new hair loss mutation on mouse Chromosome 19 Mammalian genome · 1999 · 14 citations
    25. Comprehensive Administrative and Engineering Strategies for Radiation Protection and Occupational Health Safety Clinical and Medical Engineering Live · 2025
    26. Two females with hair loss Journal der Deutschen Dermatologischen Gesellschaft · 2019
    27. Trichodystrophies: A hair-raising differential diagnosis Clinics in Dermatology · 2015 · 1 citations
    28. THE GROWTH OF HUMAN HAIR IN NUDE MICE Dermatologic clinics · 1996 · 1 citations
    29. Westwood Carolina Conference on Clinical Dermatology Journal of The American Academy of Dermatology · 1983
    30. RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome The American Journal of Human Genetics · 2012 · 112 citations