Search
for

    Sort by

    Research 871–900 of 1000+

    1. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility 2009 · 189 citations
    2. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006 · 97 citations
    3. Disorders of Keratinization American journal of clinical dermatology · 2004 · 44 citations
    4. Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population Molecular genetics and metabolism reports · 2019 · 8 citations
    5. Inherited ichthyoses/generalized Mendelian disorders of cornification European journal of human genetics · 2012 · 81 citations
    6. Position effect on <i>FGF13</i> associated with X-linked congenital generalized hypertrichosis Proceedings of the National Academy of Sciences of the United States of America · 2013 · 44 citations
    7. Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses Nature Genetics · 2015 · 73 citations
    8. Long-term Prophylaxis with Androgens in the management of Hereditary Angioedema (HAE) in emerging countries Orphanet Journal of Rare Diseases · 2022
    9. Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene Mammalian Genome · 2022
    10. Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair Nature genetics · 2008 · 210 citations
    11. Selection signatures for fiber production in commercial species: A review Animal Genetics · 2022 · 5 citations
    12. Role of Aire and Notch4 Allelic Mutations in Alopecia Areata in C3H/HeJ Mice JID Innovations · 2026
    13. The Role of the Slc39a Family of Zinc Transporters in Zinc Homeostasis in Skin Nutrients · 2018 · 19 citations
    14. Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives International Journal of Molecular Sciences · 2024 · 9 citations
    15. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles Journal of Investigative Dermatology · 2016 · 50 citations
    16. Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome Frontiers in Genetics · 2022 · 5 citations
    17. Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome The Application of Clinical Genetics · 2022 · 2 citations
    18. Genome-Wide Association Study and Transcriptome Differential Expression Analysis of the Feather Rate in Shouguang Chickens Frontiers in genetics · 2020 · 2 citations
    19. Role of Sulfur Metabolism Gene and High-Sulfur Gene Expression in Wool Growth Regulation in the Cashmere Goat Frontiers in Genetics · 2021 · 1 citations
    20. Netherton Syndrome – Responding to Oral Retinoids International Journal of Trichology · 2025
    21. 523 Targeting NETosis to treat delayed wound healing in a humanized mouse model of sickle cell disease Journal of Investigative Dermatology · 2024
    22. Altered hair root gene expression profiles highlight calcium signaling and lipid metabolism pathways to be associated with curly hair initiation and maintenance in Mangalitza pigs Frontiers in Genetics · 2023
    23. Development of Heritable Melanoma in Transgenic Mice Journal of Investigative Dermatology · 1998 · 75 citations
    24. A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response American Journal of Medical Genetics Part A · 2021 · 5 citations
    25. Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis Dermatology and Therapy · 2024 · 3 citations
    26. 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
    27. Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report Frontiers in Genetics · 2025
    28. Coexisting trichorrhexis nodosa and pili annulati: a case report of hair shaft abnormalities in a syrian family Annals of Medicine and Surgery · 2024
    29. Nε-(carboxymethyl) lysine represses hair follicle formation by inhibiting Sonic hedgehog expression in a NF-κB-independent manner International Journal of Dermatology and Clinical Research · 2019
    30. 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