Showing 1 - 20 results of 40 for search '"kabuki"', query time: 0.07s Refine Results
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    Growth deficiency in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1. by Christine W Gao, WanYing Lin, Ryan C Riddle, Sheetal Chopra, Jiyoung Kim, Leandros Boukas, Kasper D Hansen, Hans T Björnsson, Jill A Fahrner

    Published 2024-06-01
    “…Growth deficiency is a characteristic feature of both Kabuki syndrome 1 (KS1) and Kabuki syndrome 2 (KS2), Mendelian disorders of the epigenetic machinery with similar phenotypes but distinct genetic etiologies. …”
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    Kabuki make-up syndrome with unilateral renal agenesis by Rasim Ozgür Rosti, Hülya Kayserili

    Published 2009-06-01
    “… Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome with a diagnosis that is dependent upon clinical findings. …”
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    Recurrent Dislocation of the Patella in Kabuki Make-Up Syndrome by Lucie Rouffiange, Jean-Paul Dusabe, Pierre-Louis Docquier

    Published 2012-01-01
    “…Two patients with Kabuki make-up syndrome with bilateral recurrent dislocation of the patella are presented. …”
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    Presentación de un paciente con síndrome Kabuki by Gloria Elena Fernández Pérez, Elayne Esther Santana Hernández, Arianna Rodríguez Escalona, Yoania Oro Moreno, Sandra Bárbara Silva Fernández

    Published 2014-11-01
    “…  El síndrome Kabuki es una enfermedad genética poco frecuente, caracterizada por discapacidad intelectual, facie peculiar y múltiples anomalías congénitas. …”
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    Article
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    Inspired by Kabuki: Reflections on a Theatrical Experiment with Wilde’s Salomé by Dallas McCurley

    Published 2010-12-01
    “…The article first considers the appropriateness of kabuki-inspired stylizations for performance of Wilde’s spectacularly non-realistic play, while stressing what a Japanese kabuki audience would expect that could not be replicated outside of the context of such a knowing audience. …”
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    Single-Cell Transcriptome Analysis Defines Expression of Kabuki Syndrome-Associated KMT2D Targets and Interacting Partners by Badam Enkhmandakh, Paul Robson, Pujan Joshi, Anushree Vijaykumar, Dong-Guk Shin, Mina Mina, Dashzeveg Bayarsaihan

    Published 2022-01-01
    “…Objectives. Kabuki syndrome (KS) is a rare genetic disorder characterized by developmental delay, retarded growth, and cardiac, gastrointestinal, neurocognitive, renal, craniofacial, dental, and skeletal defects. …”
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