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    Research 211–240 of 1000+

    1. Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review American Journal of Medical Genetics Part A · 2021 · 10 citations
    2. Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year JCRPE · 2022 · 1 citations
    3. Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load Molecular genetics and metabolism · 2006 · 35 citations
    4. Overlapping features of atopic dermatitis and alopecia areata: from pathogenesis to treatment Frontiers in Immunology · 2025
    5. 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
    6. Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations Cell death and differentiation · 2014 · 36 citations
    7. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021 · 2 citations
    8. Molecular Mechanisms Regulating Hair Follicle Development 2002 · 854 citations
    9. What's new in the pathogeneses and triggering factors of bullous pemphigoid The Journal of Dermatology · 2022 · 46 citations
    10. Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1 Endocrinology, diabetes & metabolism case reports · 2020 · 2 citations
    11. Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins IntechOpen eBooks · 2021 · 1 citations
    12. Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting 2013 · 46 citations
    13. Regulation of Receptor Binding Specificity of FGF9 by an Autoinhibitory Homodimerization Structure · 2017 · 24 citations
    14. Pediatric adrenocortical carcinoma complicated by uric acid nephrolithiasis: a unique case report BMC Urology · 2025
    15. Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management. PubMed · 2022 · 188 citations
    16. Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency ˜The œAmerican journal of pathology · 2015 · 23 citations
    17. Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer Cells · 2020 · 22 citations
    18. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    19. The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 11 citations
    20. Immune-Molecular Link between Thyroid and Skin Autoimmune Diseases: A Narrative Review Journal of Clinical Medicine · 2024 · 6 citations
    21. Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia Children · 2023 · 4 citations
    22. 3D organotypic skin models recapitulate autoantibody-driven pemphigus pathomechanisms and targeted therapeutic response Science Advances · 2026 · 1 citations
    23. Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants Frontiers in Genetics · 2023 · 1 citations
    24. Dermatologic Manifestations of Mitochondrial Dysfunction: A Review of the Literature International journal of molecular sciences · 2024
    25. Omenn syndrome in a 10-month-old male with athymia and VACTERL association Journal of allergy and clinical Immunology. Global · 2023
    26. In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis Pharmaceuticals · 2023
    27. Third International Research Workshop on Alopecia Areata Journal of Investigative Dermatology · 1999 · 15 citations
    28. Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia ˜The œAmerican journal of pathology · 2000 · 179 citations
    29. The molecular pathogenesis of Trichilemmal carcinoma BMC Cancer · 2020 · 19 citations
    30. A Hairy Cituation – PADIs in Regeneration and Alopecia Frontiers in Cell and Developmental Biology · 2021 · 5 citations