检索结果 - Kamel Awayda

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    Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases

    Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases 由 M. Anwar Iqbal, Ulrich Broeckel, Brynn Levy, Steven A. Skinner, Nikhil Sahajpal, Vanessa Rodríguez‐Fanjul, Aaron A. Stence, Kamel Awayda, Gunter Scharer, Cindy Skinner, Roger E. Stevenson, Aaron Bossler, Péter L. Nagy, Ravindra Kolhe

    出版 2023
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    THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

    THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder 由 Martin Broly, Bogdan Polevoda, Kamel Awayda, Ning Tong, Jenna M. Lentini, Thomas Besnard, Wallid Deb, Declan O’Rourke, Júlia Baptista, Sian Ellard, Mohammed Almannai, Mais Hashem, Ferdous Abdulwahab, Hanan E. Shamseldin, Saeed M Al-Tala, Fowzan S. Alkuraya, A. S. Leon, Rosa Laura E. van Loon, Alessandra Ferlini, Mariabeatrice Sanchini, Stefania Bigoni, Andrea Ciorba, Hans van Bokhoven, Zafar Iqbal, Almundher Al‐Maawali, Fathiya Al-Murshedi, Anuradha Ganesh, Watfa Al‐Mamari, Sze Chern Lim, Lynn Pais, Natasha J. Brown, Saima Riazuddin, Stéphane Bézieau, Dragony Fu, Bertrand Isidor, Benjamin Cogné, Mitchell R. O’Connell

    出版 2022
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