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    Research 571–600 of 1000+

    1. Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2010
    2. Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2010
    3. INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS 2008
    4. Research Snippets British Journal of Dermatology · 2005
    5. Independent DSG4 frameshift variants in cats with hair shaft dystrophy Molecular genetics and genomics · 2021
    6. Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives International Journal of Molecular Sciences · 2024 · 9 citations
    7. Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing Molecular Genetics & Genomic Medicine · 2025
    8. Novel insights into cardiocutaneous syndromes 2022
    9. FOXN1 deficient nude severe combined immunodeficiency Orphanet journal of rare diseases · 2017 · 32 citations
    10. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin Genetics in medicine · 2018 · 10 citations
    11. Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease Frontiers in immunology · 2020 · 41 citations
    12. K <sub>ATP</sub> Channels and Cardiovascular Disease Circulation Research · 2013 · 144 citations
    13. Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia The New England Journal of Medicine · 2019 · 95 citations
    14. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex International Journal of Molecular Sciences · 2021 · 40 citations
    15. Genetically separable determinants of hair keratin gene expression Developmental Dynamics · 2000 · 27 citations
    16. Abstracts Medizinische Genetik · 2019 · 2 citations
    17. FGF5 is a crucial regulator of hair length in humans Proceedings of the National Academy of Sciences of the United States of America · 2014 · 136 citations
    18. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    19. Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis Frontiers in Medicine · 2025
    20. Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities Neuropediatrics · 2012
    21. Recent advances in congenital ichthyoses 2015 · 10 citations
    22. Human hair melanins: what we have learned and have not learned from mouse coat color pigmentation Pigment Cell & Melanoma Research · 2010 · 140 citations
    23. Generalized atrophic benign epidermolysis bullosa. PubMed · 1997 · 51 citations
    24. Expanding the Phenotypic Spectrum of Olmsted Syndrome Journal of Investigative Dermatology · 2015 · 27 citations
    25. Molecular basis of congenital atrichia in humans and mice. PubMed · 1999 · 15 citations
    26. Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria. PubMed · 2002 · 9 citations
    27. Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis Journal of Investigative Dermatology · 2016 · 8 citations
    28. Monilethrix, a rare inherited hair shaft disorder in siblings Indian dermatology online journal · 2014 · 4 citations
    29. Convergent Decay of Skin-specific Gene Modules in Pangolins bioRxiv (Cold Spring Harbor Laboratory) · 2022 · 1 citations
    30. Buschke-Ollendorff syndrome British Journal of Dermatology · 2016 · 1 citations