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    Research 211–240 of 347

    1. 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
    2. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999 · 66 citations
    3. Genome-wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26 American Journal of Human Genetics · 2008 · 62 citations
    4. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018 · 55 citations
    5. Characterization of the Human Hair Keratin–Associated Protein 2 (KRTAP2) Gene Family Journal of Investigative Dermatology · 2012 · 52 citations
    6. S100A6: molecular function and biomarker role Biomarker Research · 2023 · 50 citations
    7. Polymorphisms in the Human High Sulfur Hair Keratin-associated Protein 1, KAP1, Gene Family 2002 · 48 citations
    8. Fertility evaluation of infertile women: a committee opinion Fertility and Sterility · 2021 · 45 citations
    9. Position effect on <i>FGF13</i> associated with X-linked congenital generalized hypertrichosis Proceedings of the National Academy of Sciences of the United States of America · 2013 · 44 citations
    10. Major Histocompatibility Complex Class I Chain-Related Gene A Polymorphisms and Extended Haplotypes Are Associated with Familial Alopecia Areata Journal of Investigative Dermatology · 2005 · 44 citations
    11. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004 · 44 citations
    12. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex International Journal of Molecular Sciences · 2021 · 40 citations
    13. Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human Genetics · 2012 · 39 citations
    14. Central centrifugal cicatricial alopecia: challenges and solutions Clinical, Cosmetic and Investigational Dermatology · 2016 · 37 citations
    15. Madarosis: A marker of many Maladies International Journal of Trichology · 2012 · 36 citations
    16. A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2005 · 33 citations
    17. Follicular and Scarring Disorders in Skin of Color: Presentation and Management American Journal of Clinical Dermatology · 2014 · 30 citations
    18. 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
    19. Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed Genes · 2020 · 27 citations
    20. Neuropsychiatric Adverse Events of Montelukast: An Analysis of Real-World Datasets and drug−gene Interaction Network Frontiers in Pharmacology · 2021 · 26 citations
    21. Genetic Hair Disorders: A Review Dermatology and Therapy · 2019 · 26 citations
    22. Poster Presentations Australasian Journal of Dermatology · 2021 · 25 citations
    23. Comparative genomics analyses of alpha-keratins reveal insights into evolutionary adaptation of marine mammals Frontiers in Zoology · 2017 · 25 citations
    24. The Implication of Neuroactive Steroids in Tourette's Syndrome Pathogenesis: A Role for 5α‐Reductase? Journal of neuroendocrinology · 2013 · 24 citations
    25. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice PLOS genetics · 2020 · 23 citations
    26. Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma JAAD case reports · 2017 · 23 citations
    27. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012 · 22 citations
    28. Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2) Journal of Investigative Dermatology · 2003 · 22 citations
    29. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    30. Developmental genetics of color pattern establishment in cats Nature communications · 2021 · 20 citations