Search
for

    Sort by

    Research 61–90 of 1000+

    1. 8507 Misdiagnosis of Graves’ and RAI Treatment in Patient with THRB Gene Mutation Journal of the Endocrine Society · 2024
    2. <i>CCDC47</i> gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia American Journal of Medical Genetics Part A · 2024
    3. Multiple facial atrophic scars in childhood Pediatric Dermatology · 2024
    4. Clinical case of alopecia totalis in pediatric practice Sučasna pedìatrìâ. Ukraïna · 2023
    5. The Case | Bilateral kidney tumors and lung cysts Kidney international · 2013
    6. ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy The Application of Clinical Genetics · 2022 · 15 citations
    7. Induction of hair follicle dermal papilla cell properties in human induced pluripotent stem cell-derived multipotent LNGFR(+)THY-1(+) mesenchymal cells Scientific Reports · 2017 · 42 citations
    8. Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene Journal of dermatology · 2015 · 10 citations
    9. Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene Journal of Molecular Neuroscience · 2022 · 9 citations
    10. Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene Endocrine · 2011 · 8 citations
    11. Efficient Gene Editing for Heart Disease via ELIP-Based CRISPR Delivery System Pharmaceutics · 2024 · 6 citations
    12. Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family Journal of clinical laboratory analysis · 2021 · 4 citations
    13. STAT3 Partly Inhibits Cell Proliferation via Direct Negative Regulation of FST Gene Expression Frontiers in genetics · 2021 · 3 citations
    14. Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome Journal of pediatric & adolescent gynecology · 2019 · 1 citations
    15. Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx OPAL (Open@LaTrobe) (La Trobe University) · 2025
    16. A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene Clinical Case Reports · 2025
    17. Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review Frontiers in endocrinology · 2024
    18. Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation Case reports in dermatological medicine · 2023
    19. Pachyonychia congenita: Sporadic onset with mutation analysis Indian dermatology online journal · 2023
    20. Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation Frontiers in pediatrics · 2022
    21. A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome Indian dermatology online journal · 2023
    22. Androgen regulation of a specific gene in hamster flank organs Archives of dermatological research · 1991 · 12 citations
    23. Skin equivalent assay: An optimized method for testing for hair growth reconstitution capacity of epidermal and dermal cells Experimental Dermatology · 2019 · 8 citations
    24. Sequencing KRT71 as a candidate gene for hair shape variation in dromedary camels Kuwait Journal of Science · 2025
    25. Repurposing of Drugs as Novel Influenza Inhibitors From Clinical Gene Expression Infection Signatures Frontiers in Immunology · 2019 · 42 citations
    26. <i>De novo</i> mutation in the mitochondrial tRNA<sup>Leu(UUR)</sup> gene (A3243G) with rapid segregation resulting in MELAS in the offspring Journal of paediatrics and child health · 2001 · 19 citations
    27. Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat Research Square (Research Square) · 2021 · 2 citations
    28. A 4kb Fragment of the Desmocollin 3 Promoter Directs Reporter Gene Expression to Parakeratotic Epidermis and Primary Hair Follicles Journal of Investigative Dermatology · 2006 · 1 citations
    29. 1250 Development of an ex vivo human skin explant model to examine candidate gene functions in the hair follicle and epidermis 2018
    30. 510 Enhancing hair follicle growth: investigating the synergistic effects of ursolic and shikimic acid through in vitro testing on dermal papilla cells Journal of Investigative Dermatology · 2024