Showing 1 - 3 results of 3 for search 'Bruno Reversade', query time: 0.01s
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Novel CYCLIN‐O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia by Kim Hoong Yap, Albert Yick Hou Lim, Biju Thomas, Carine Bonnard, Emmanuelle Szenker‐Ravi, Yan Ling Chong, Sudipto Roy, Bruno Reversade
Published 2024-11-01Get full text
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RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis by Samantha Wong, Yu Xuan Tan, Abigail Yi Ting Loh, Kiat Yi Tan, Hane Lee, Zainab Aziz, Stanley F Nelson, Engin Özkan, Hülya Kayserili, Nathalie Escande‐Beillard, Bruno Reversade
Published 2023-04-01Get full text
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A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing by Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker‐Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El‐Khateeb, Rajaa Fathallah, Jean‐Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande‐Beillard, Andreas Mayer, Bruno Reversade
Published 2023-01-01Get full text
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