檢索結果 - Alba Guxholli
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Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations 由 Elizabeth A. Werren, Emily Peirent, Henna Jäntti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Paweł Gawliński, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, Koen L.I. van Gassen, Jacques C. Giltay, Renske Oegema, Richard H. van Jaarsveld, Rafiullah Rafiullah, Gudrun Rappold, Rachel Rabin, John Pappas, Marsha M. Wheeler, Michael J. Bamshad, Yao-Chang Tsan, Matthew B. Johnson, Catherine E. Keegan, Anshika Srivastava, Stephanie Bielas
出版 2024Artigo