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Listar por autor "Marchi, Elaine"

RiuNet: Repositorio Institucional de la Universidad Politécnica de Valencia

Listar por autor "Marchi, Elaine"

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    KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients 
    Guo, Lily; Park,Jiyeon; Yi, Edward; Marchi, Elaine; Hsieh, Tzung-Chien; Kibalnyk, Yana; Moreno-Sáez, Yolanda; Biskup, Saskia; Puk, Oliver; Beger, Carmela; Li, Quan; Wang, Kai; Voronova, Anastassia; Krawitz, Peter M.; Lyon, Gholson J. (Nature Publishing Group, 2022-11)
    [EN] Genetic variants in Ankyrin Repeat Domain 11 (ANKRD11) and deletions in 16q24.3 are known to cause KBG syndrome, a rare syndrome associated with craniofacial, intellectual, and neurobehavioral anomalies. We report 25 ...