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    Research 901–930 of 1000+

    1. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl 2011 · 6 citations
    2. Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b The Journal of Dermatology · 2013 · 4 citations
    3. Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix Chinese Medical Journal · 2013 · 4 citations
    4. Homologous recombination induced by doxazosin mesylate and saw palmetto in the <i>Drosophila</i> wing‐spot test 2011 · 3 citations
    5. A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix 2011 · 3 citations
    6. Highly Conserved Keratin-Associated Protein 7-1 Gene in Yak, Taurine and Zebu Cattle Folia biologica · 2017 · 2 citations
    7. Spatial Gene Profiling in the Ischemic Heart Circulation · 2017 · 1 citations
    8. Analysis of R199H Polymorphism of Canine Melanophilin Gene (MLPH) in Population of Czech Pointer in Slovakia DOAJ (DOAJ: Directory of Open Access Journals) · 2011 · 1 citations
    9. Jojoba (Simmondsia chinensis (Link) Schneider): An important Medicinal Plant- The Gold of the Desert GSC Advanced Research and Reviews · 2026
    10. 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets Journal of the Endocrine Society · 2024
    11. Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation Case reports in dermatological medicine · 2023
    12. CRISPR/Cas9-mediated Generation of<i>COL7A1</i>-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa bioRxiv (Cold Spring Harbor Laboratory) · 2023
    13. Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay Pesquisa Veterinária Brasileira · 2023
    14. Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation Frontiers in pediatrics · 2022
    15. A Neonate with Blisters Pediatrics in Review · 2020
    16. A direct link between<i>Prss53</i>, hair curvature, and skeletal dysplasia bioRxiv (Cold Spring Harbor Laboratory) · 2019
    17. Odd-Looking Hair and Progressive Alopecia in Mother and Son JAMA Dermatology · 2014
    18. The Roles of Smad2 and Smad3 in Mouse Skin Development The Knowledge Bank (The Ohio State University) · 2008
    19. Identification of a Cyclosporine-Specific P450 Hydroxylase Gene through Targeted Cytochrome P450 Complement (CYPome) Disruption in Sebekia benihana Applied and Environmental Microbiology · 2013 · 13 citations
    20. An unusual presentation of X-linked adrenoleukodystrophy Endocrinology, Diabetes & Metabolism Case Reports · 2015 · 2 citations
    21. Does Nicastrin Inadequacy Cause Melanocytotoxicity in Human Skin as in the Fish Counterpart? 2021
    22. A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia 2014
    23. Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague Proceedings of The Japanese Society of Animal Models for Human Diseases · 2002
    24. Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations Archives of Dermatology · 2009 · 44 citations
    25. Riboflavin-responsive glutaryl CoA dehydrogenase deficiency Molecular Genetics and Metabolism · 2005 · 25 citations
    26. Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells The Journal of Dermatology · 2013 · 16 citations
    27. The Okuda Papers: an extraordinary - but unfortunately unrecognized - piece of work that could have changed the history of hair transplantation Experimental Dermatology · 2015 · 8 citations
    28. Deletion of Deoxyribonucleic Acid Binding Domain of the Vitamin D Receptor Abrogates Genomic and Nongenomic Functions of Vitamin D Molecular Endocrinology · 2002 · 277 citations
    29. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex Nature · 2010 · 199 citations
    30. A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity The Journal of Clinical Endocrinology & Metabolism · 2005 · 91 citations