Search
for

    Sort by

    Research 661–690 of 1000+

    1. Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023) American Journal of Medical Genetics Part A · 2024 · 21 citations
    2. The molecular pathogenesis of Trichilemmal carcinoma BMC Cancer · 2020 · 19 citations
    3. Skin precancer. PubMed · 1998 · 16 citations
    4. Effects of SLC45A2 and GPNMB on Melanin Deposition Based on Transcriptome Sequencing in Chicken Feather Follicles Animals · 2023 · 10 citations
    5. Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review American Journal of Medical Genetics Part A · 2021 · 10 citations
    6. The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China Clinical Cosmetic and Investigational Dermatology · 2021 · 10 citations
    7. New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene BMC medical genetics · 2014 · 9 citations
    8. Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza Scientific reports · 2020 · 8 citations
    9. Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis Journal of Investigative Dermatology · 2016 · 8 citations
    10. Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families BMC Ophthalmology · 2024 · 6 citations
    11. Safety of Whole-Body Abrogation of the TRF1 Shelterin Protein in Wild-Type and Cancer-Prone Mouse Models iScience · 2019 · 5 citations
    12. Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits BMC Genomics · 2024 · 2 citations
    13. A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies 2022 · 2 citations
    14. Structural and epistatic regulatory variants cause hallmark white spotting in cattle Science Advances · 2025 · 1 citations
    15. Genome-Wide Association Study for Body Conformation Traits in Kazakh Fat-Tailed Coarse-Wool Sheep Genes · 2025 · 1 citations
    16. Identification of the Keratin-Associated Protein 22-2 Gene in the Capra hircus and Association of Its Variation with Cashmere Traits Animals · 2023 · 1 citations
    17. Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study Journal of Translational Genetics and Genomics · 2020 · 1 citations
    18. Genome-wide association study reveals candidate genes associated with body weight and wool traits in Ordos fine-wool sheep Frontiers in Veterinary Science · 2026
    19. miR-200a Targets PITX2 to Mediate Goose Fibroblast Proliferation Through the Wnt Pathway Animals · 2025
    20. Molecular mechanisms underlying cashmere quality differences between Jiangnan cashmere goats and Changthangi pashmina goats Frontiers in Veterinary Science · 2025
    21. A Mosaic Hotspot <i>PLCD1</i> Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus American Journal of Medical Genetics Part A · 2025
    22. Pathogenesis and management of TRPV3-related Olmsted syndrome Frontiers in Genetics · 2024
    23. Genome-Wide Association Studies of Hair Whorl in Pigs Genes · 2024
    24. The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report Egyptian Journal of Medical Human Genetics · 2024
    25. Effects of KRTAP20-1 Gene Variation on Wool Traits in Chinese Tan Sheep Genes · 2024
    26. Integration Analysis of Hair Follicle Transcriptome and Proteome Reveals the Mechanisms Regulating Wool Fiber Diameter in Angora Rabbits International journal of molecular sciences · 2024
    27. Multi-ancestry tandem repeat association study of hair colour using exome-wide sequencing bioRxiv (Cold Spring Harbor Laboratory) · 2024
    28. <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
    29. A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter JAAD case reports · 2023
    30. Author response: Complementary evolution of coding and noncoding sequence underlies mammalian hairlessness 2022