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    Research 61–90 of 1000+

    1. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    2. Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature Jaypee's international journal of clinical pediatric dentistry · 2018 · 11 citations
    3. Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia The American Journal of Human Genetics · 2012 · 74 citations
    4. Recently Identified Forms of Epidermolysis Bullosa 2015 · 39 citations
    5. Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza Scientific reports · 2020 · 8 citations
    6. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    7. When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman The Neurologist · 2022 · 3 citations
    8. Common genetic hair shaft abnormalities may be visualized by light and electron microscope Global Dermatology · 2019
    9. Genetic correlation by pedigree analysis in patients diagnosed with PCOS as per Rotterdam’s criteria International Journal of Clinical Obstetrics and Gynaecology · 2025
    10. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome The American Journal of Human Genetics · 2012 · 71 citations
    11. Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1 American journal of medical genetics. Part A · 2022
    12. A retrospective study on the characteristics of androgenetic alopecia among Asian races in the National Skin Centre, a tertiary dermatological referral centre in Singapore. PubMed · 2002 · 2 citations
    13. Semidominant Inheritance in Epidermolytic Ichthyosis Journal of Investigative Dermatology · 2013 · 10 citations
    14. Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles Frontiers in genetics · 2022
    15. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations
    16. Trichothiodystrophy in a child with occult learning disorder International Journal of Trichology · 2013
    17. Werner′s syndrome Indian Journal of Dermatology Venereology and Leprology · 2012 · 5 citations
    18. A review of genotrichoses and hair pathology associated with inherited skin diseases British Journal of Dermatology · 2023 · 8 citations
    19. Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype 2025
    20. Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14 Frontiers in Medicine · 2026
    21. Coexistence of Woolly Hair and Monilethrix: A Cases Study Mağallaẗ al-Muẖtar li-l-ʿulūm · 2021
    22. Distancia promedio de la línea de implantación pilosa frontal y sus estructuras en una población de mujeres colombianas Medunab · 2017
    23. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    24. The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis PLoS Genetics · 2012 · 99 citations
    25. Marie-unna hereditary hypotrichosis International Journal of Trichology · 2014 · 4 citations
    26. Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia American Journal of Human Genetics · 2005 · 195 citations
    27. Fibrosing Frontal Alopecia: A comprehensive study to understand its etiology International Seven Journal of Multidisciplinary · 2024
    28. A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 78 citations
    29. 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
    30. A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2017 · 33 citations