Search
for

    Sort by

    Research 931–960 of 1000+

    1. An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome International Journal of Molecular Medicine · 2013 · 20 citations
    2. Gonadal Dysgenesis: Associations between Clinical Features and Sex of Rearing. Endocrine Journal · 1997 · 9 citations
    3. Epigenetic regulation of 5α reductase-1 underlies adaptive plasticity of reproductive function and pubertal timing BMC Biology · 2022 · 8 citations
    4. Pigmentary mosaicism: An update Indian Journal of Dermatology · 2008 · 7 citations
    5. 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
    6. Phytochemical study of <i>Bituminaria basaltica</i> aerial parts, an Italian endemism Natural Product Research · 2017 · 5 citations
    7. Computational derivation of a molecular framework for hair follicle biology from disease genes Scientific Reports · 2017 · 4 citations
    8. Genomic and Transcriptomic Characterization of Atypical Recurrent Flank Alopecia in the Cesky Fousek Genes · 2022 · 2 citations
    9. The post-terminal differentiation fate of RNAs revealed by next-generation sequencing eScholarship (California Digital Library) · 2012
    10. Novel missense mutation in the EDA gene in a family affected by oligodontia 2016 · 12 citations
    11. Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease Skin appendage disorders · 2018 · 2 citations
    12. The Hidden Link between Polycystic Ovary Syndrome and Kidney Stones: Finding from the Tehran Lipid and Glucose Study (TLGS) Diagnostics · 2023 · 1 citations
    13. An Unusual Cause of Primary Amenorrhea Journal of the Endocrine Society · 2021
    14. Transgneic Endothelin 3 Regulates Murine Pigment Production and Coat Color 2017
    15. Molecular and Functional Characterization of Clonogenic Human Thymic Epithelial Cells Infoscience (Ecole Polytechnique Fédérale de Lausanne) · 2012
    16. The color of human hair 2011
    17. Genetically Altered Expression of Spermidine/Spermine N1-Acetyltransferase Affects Fat Metabolism in Mice via Acetyl-CoA Journal of Biological Chemistry · 2006 · 128 citations
    18. The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71 Mammalian genome · 2010 · 75 citations
    19. Mammalian keratin associated proteins (KRTAPs) subgenomes: disentangling hair diversity and adaptation to terrestrial and aquatic environments BMC genomics · 2014 · 65 citations
    20. Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed Genes · 2020 · 27 citations
    21. 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
    22. Genome-wide association study for cashmere traits in Inner Mongolia cashmere goat population reveals new candidate genes and haplotypes BMC Genomics · 2024 · 13 citations
    23. Genome-wide Target Enrichment-aided Chip Design: a 66 K SNP Chip for Cashmere Goat Scientific reports · 2017 · 13 citations
    24. Disease causing homozygous variants in the human hairless gene International Journal of Dermatology · 2015 · 7 citations
    25. PNKP is required for maintaining the integrity of progenitor cell populations in adult mice Life science alliance · 2021 · 3 citations
    26. Scarless wound healing – a literature review Romanian Journal of Pediatrics · 2019 · 2 citations
    27. Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy 2022 · 1 citations
    28. Polycystic Ovary Syndrome: Explaining the Gynecological Aspects and Treatment Options to Patients Journal of endocrinology and diabetes · 2015 · 1 citations
    29. A Clinical Genetics-Driven Dual Diagnosis of Prader–Willi Syndrome Due to Mosaic Maternal UPD(15) and NOTCH3-Related CADASIL Genes · 2026
    30. Pathogenesis and management of TRPV3-related Olmsted syndrome Frontiers in Genetics · 2024