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    Research 121–150 of 158

    1. The Transmembrane Serine Protease HAT-like 4 Is Important for Epidermal Barrier Function to Prevent Body Fluid Loss Scientific Reports · 2017 · 19 citations
    2. 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
    3. AVALIAÇÃO DO USO DE TELAS DIGITAIS POR CRIANÇAS E ADOLESCENTES EM TEMPOS DE PANDEMIA Brazilian Journals Editora eBooks · 2023 · 1 citations
    4. Update on Hidradenitis Suppurativa (Part I): Epidemiology, Pathogenesis, Severity assessment and Comorbidities Revista da Sociedade Portuguesa de Dermatologia e Venereologia · 2018 · 1 citations
    5. NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis Revista română de medicină de laborator · 2016 · 1 citations
    6. Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree Frontiers in Genetics · 2025
    7. Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ 2012 · 44 citations
    8. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    9. Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families BMC Ophthalmology · 2024 · 6 citations
    10. An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient Indian Journal of Dermatology · 2025
    11. Data_Sheet_1_Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice.docx OPAL (Open@LaTrobe) (La Trobe University) · 2021
    12. Hair Shaft Disorders CRC Press eBooks · 2021
    13. Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome Journal of Investigative Dermatology · 2017 · 62 citations
    14. Male infertility and genitourinary birth defects: there is more than meets the eye Fertility and Sterility · 2020 · 26 citations
    15. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    16. Pathologic Quiz Case: An Anterior Neck Mass in a 5-Month-Old Female Infant Archives of Pathology & Laboratory Medicine · 2004 · 9 citations
    17. <i>NIPAL4</i> deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy Veterinary medicine and science · 2019 · 7 citations
    18. A homozygous missense variant in type I keratin <i>KRT25</i> causes autosomal recessive woolly hair Journal of Medical Genetics · 2015 · 29 citations
    19. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation American journal of ophthalmology. Case reports · 2017 · 9 citations
    20. Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report Frontiers in Medicine · 2025
    21. Table of Contents Plastic & Reconstructive Surgery Global Open · 2022
    22. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene <i>LIPH</i> Science · 2006 · 194 citations
    23. Plastic surgery : indications, operations, and outcomes Mosby eBooks · 2000 · 30 citations
    24. Subcellular localization of the five members of the human steroid 5α-reductase family Biochimie open · 2017 · 13 citations
    25. Ectodysplasin Signaling in Cutaneous Appendage Development: Dose, Duration, and Diversity 2009 · 9 citations
    26. RoPod, a customizable toolkit for non-invasive root imaging, reveals cell type-specific dynamics of plant autophagy Scientific Reports · 2024 · 6 citations
    27. De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia BMC Medical Genomics · 2024 · 3 citations
    28. Mutation of the GDP-Fucose Biosynthesis Gene gmds Increases Hair Cell Number and Neuromast Regenerative Capacity in Zebrafish International Journal of Molecular Sciences · 2025 · 1 citations
    29. First Symposium of Ichthyosis Experts 2013 · 1 citations
    30. 25-Year-Old Woman With New-Onset Seizures Mayo Clinic proceedings · 2009