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    Research 121–150 of 1000+

    1. Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements Journal of Human Genetics · 2016 · 30 citations
    2. Diseases of Periocular Hair Survey of Ophthalmology · 2011 · 7 citations
    3. Hair loss in children. Archives of Disease in Childhood · 1993 · 6 citations
    4. Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia Pediatria i Medycyna Rodzinna · 2025 · 1 citations
    5. EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia Genes · 2024
    6. Acquired Uncombable Hair Archives of Dermatology · 1993 · 6 citations
    7. Management of congenital ichthyoses: European guidelines of care, part two British Journal of Dermatology · 2018 · 66 citations
    8. <i>De novo</i> filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks FEBS open bio · 2021 · 2 citations
    9. A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome American journal of medical genetics. Part A · 2023
    10. 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
    11. A rare case of woolly hair with unusual associations Indian dermatology online journal · 2013 · 12 citations
    12. Hair and Nail Manifestations of Systemic Disease Current Dermatology Reports · 2017 · 1 citations
    13. Madarosis Survey of Ophthalmology · 2006 · 33 citations
    14. Madarosis, milphosis, eyelash trichomegaly, and dermatochalasis Clinics in Dermatology · 2015 · 10 citations
    15. Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases International Journal of Molecular Sciences · 2022 · 6 citations
    16. Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review Human Genomics · 2025
    17. Genetics of Alopecia Encyclopedia of Life Sciences · 2012
    18. Omenn syndrome in a 10-month-old male with athymia and VACTERL association Journal of allergy and clinical Immunology. Global · 2023
    19. Alopecia Areata with Renal Dysgenesis International Journal of Trichology · 2023
    20. Frizzled Receptors in Development and Disease 2016 · 114 citations
    21. Severe Abnormalities in the Oral Mucosa Induced by Suprabasal Expression of Epidermal Keratin K10 in Transgenic Mice Journal of Biological Chemistry · 2002 · 15 citations
    22. Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome American Journal of Medical Genetics Part A · 2021 · 11 citations
    23. Common genetic hair shaft abnormalities may be visualized by light and electron microscope Global Dermatology · 2019
    24. Hair-Thread Tourniquet Syndrome: A Case Report and Literature Review Case Reports in Medicine · 2012 · 28 citations
    25. Evaluation of hair loss Current problems in dermatology · 1996 · 21 citations
    26. Hair shaft disorders IP Indian Journal of Clinical and Experimental Dermatology · 2025
    27. Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells The Journal of Dermatology · 2013 · 16 citations
    28. Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family Dermatology Reports · 2011 · 1 citations
    29. Diagnosis and management of hair loss in children Current Opinion in Pediatrics · 2016 · 1 citations
    30. Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia Orphanet Journal of Rare Diseases · 2026