Search
for

    Sort by

    Research 361–390 of 1000+

    1. Riboflavin-responsive glutaryl CoA dehydrogenase deficiency Molecular Genetics and Metabolism · 2005 · 25 citations
    2. Inherited Epidermolysis Bullosa: A Clinical Case Medical journal of clinical trials & case studies · 2020
    3. Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment Scientific Reports · 2024 · 13 citations
    4. The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria 2022 · 2 citations
    5. Congenital Atrichia: A Case Report International journal of science and healthcare research · 2023
    6. Beyond Expectations International review of cell and molecular biology · 2014 · 70 citations
    7. 666 Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in follicular dystrophy and primary cicatricial alopecia Journal of Investigative Dermatology · 2018
    8. 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
    9. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    10. Activated Kras Alters Epidermal Homeostasis of Mouse Skin, Resulting in Redundant Skin and Defective Hair Cycling Journal of Investigative Dermatology · 2010 · 29 citations
    11. Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature International journal of immunopathology and pharmacology · 2015 · 6 citations
    12. Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita Science Advances · 2025 · 3 citations
    13. 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum Journal of Investigative Dermatology · 2025
    14. 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
    15. Lanceolate hair-J (<i>lah<sup>J</sup> </i> ): A mouse model for human hair disorders Experimental dermatology · 2000 · 37 citations
    16. RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development Orphanet journal of rare diseases · 2022 · 5 citations
    17. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics · 2022 · 6 citations
    18. Alopecia in a Viable Phospholipase C Delta 1 and Phospholipase C Delta 3 Double Mutant PloS one · 2012 · 8 citations
    19. SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder Cell · 2010 · 260 citations
    20. Towards Defining the Pathogenesis of the Hairless Phenotype Journal of Investigative Dermatology · 1998 · 86 citations
    21. 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review Hormones · 2018 · 39 citations
    22. Progressive Hair Loss and Myocardial Degeneration in Rough Coat Mice: Reduced Lysyl Oxidase-Like (LOXL) in the Skin and Heart Journal of Investigative Dermatology · 2004 · 22 citations
    23. The expression of the gene <i>asebia</i> in the laboratory mouse: 3. Sebaceous glands Genetics Research · 1978 · 16 citations
    24. <i>BUZZ</i>: an essential gene for postinitiation root hair growth and a mediator of root architecture in <i>Brachypodium distachyon</i> New phytologist · 2023
    25. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    26. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex International Journal of Molecular Sciences · 2021 · 40 citations
    27. Cellular heterogeneity and microenvironmental control of skin cancer Journal of Internal Medicine · 2020 · 16 citations
    28. Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene Journal of Molecular Neuroscience · 2022 · 9 citations
    29. Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome 2016
    30. Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome 2016