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    Research 811–840 of 1000+

    1. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    2. Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases European Journal of Human Genetics · 2019 · 7 citations
    3. WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes American journal of human genetics · 2009 · 197 citations
    4. An unexpected role for keratin 10 end domains in susceptibility to skin cancer Journal of Cell Science · 2006 · 43 citations
    5. CD34 Expression by Hair Follicle Stem Cells Is Required for Skin Tumor Development in Mice Cancer Research · 2007 · 141 citations
    6. De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes European Journal of Human Genetics · 2019 · 36 citations
    7. Ku80 as a Novel Receptor for Thymosin β4 That Mediates Its Intracellular Activity Different from G-actin Sequestering Journal of Biological Chemistry · 2007 · 37 citations
    8. A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia Archives of Biochemistry and Biophysics · 2006 · 37 citations
    9. The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report Egyptian Journal of Medical Human Genetics · 2024
    10. A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1 Journal of Investigative Dermatology · 1998 · 47 citations
    11. Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6 Journal of Investigative Dermatology · 1999 · 29 citations
    12. Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype Journal of Investigative Dermatology · 1999 · 62 citations
    13. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999 · 66 citations
    14. Genetic Basis of Male Pattern Baldness Journal of Investigative Dermatology · 2003 · 191 citations
    15. Biotin and biotinidase deficiency Expert Review of Endocrinology & Metabolism · 2008 · 166 citations
    16. Suppression of Vitamin D Receptor and Induction of Retinoid X Receptor α Expression During Squamous Differentiation of Cultured Keratinocytes 2000 · 15 citations
    17. Genetic Analysis of Male Pattern Baldness and the 5α-Reductase Genes Journal of Investigative Dermatology · 1998 · 169 citations
    18. μ-Crystallin, Thyroid Hormone-binding Protein, is Expressed Abundantly in the Murine Inner Root Sheath Cells Journal of Investigative Dermatology · 2000 · 22 citations
    19. Cashmere growth control in Liaoning cashmere goat by ovarian carcinoma immunoreactive antigen-like protein 2 and decorin genes Asian-Australasian journal of animal sciences · 2018 · 7 citations
    20. Towards Defining the Pathogenesis of the Hairless Phenotype Journal of Investigative Dermatology · 1998 · 86 citations
    21. Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full. Journal of Investigative Dermatology · 2002 · 69 citations
    22. Long-term expansion and differentiation of adult murine epidermal stem cells in 3D organoid cultures Proceedings of the National Academy of Sciences · 2019 · 67 citations
    23. Skin-specific regulation of SREBP processing and lipid biosynthesis by glycerol kinase 5 Proceedings of the National Academy of Sciences of the United States of America · 2017 · 18 citations
    24. Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan Pakistan Journal of Zoology · 2020
    25. Polymorphism of the Androgen Receptor Gene is Associated with Male Pattern Baldness Journal of Investigative Dermatology · 2001 · 299 citations
    26. Targeted Overexpression of the Angiogenesis Inhibitor Thrombospondin-1 in the Epidermis of Transgenic Mice Prevents Ultraviolet-B-Induced Angiogenesis and Cutaneous Photo-Damage Journal of Investigative Dermatology · 2002 · 93 citations
    27. Epidermal Dysplasia and Abnormal Hair Follicles in Transgenic Mice Overexpressing Homeobox Gene MSX-2 Journal of Investigative Dermatology · 1999 · 49 citations
    28. Evaluation of the Hair Growth-Promoting Effects of Combined Treatment with Hair Growth Stimulants Health · 2025
    29. FORENSIC DNA PHENOTYPING FOR CRIMINAL IDENTIFICATION Clinical & experimental pathology · 2024
    30. A review of hyperandrogenism state in polycystic ovarian syndrome International journal of reproduction, contraception, obstetrics and gynecology · 2023