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Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort by Benedetta Elena Di Majo, Benedetta Elena Di Majo, Chiara Leoni, Eleonora Cartisano, Eleonora Cartisano, Chiara Fossati, Germana Viscogliosi, Valentina Trevisan, Lucia Pia Bruno, Francesca Conti, Mattia Moratti, Emilia Monaco, Donato Rigante, Donato Rigante, Beatrice Rivalta, Beatrice Rivalta, Caterina Cancrini, Caterina Cancrini, Aleksandra Szczawińska-Popłonyk, Aleksander Jamsheer, Aleksander Jamsheer, Monika Obara-Moszyńska, Viktoria Zakharova, Anna Shcherbina, Julija Rodina, Beyhan Tüysüz, Saumya Shekhar Jamuar, Saumya Shekhar Jamuar, Jiin Ying Lim, Jeannette Goh, Anna Cereda, Teresa Agovino, Ilaria Contaldo, Maria Luigia Gambardella, Adriana Cristina Balduzzi, Adriana Cristina Balduzzi, Alessia Cherubino, Giovanni Antonio Marrocco, Silvia Bellesi, Valentina Carusi, Gabriele Rumi, Andrea Biondi, Giuseppe Zampino, Giuseppe Zampino, Francesco Saettini, Francesco Saettini
Published 2025-07-01Get full text
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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships by Eleanor C. Broeren, Vanessa N. Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie B. Balzotti, Jonathan S. Berg, Krista Bluske, B. Monica Bowen, Matthew P. Brown, Amanda Buchanan, Brendan T. Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda R. Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa A. Elnagheeb, Amanda N. Girod, Himanshu Goel, Katie L. Golden-Grant, Thuong Ha, Ada Hamosh, Jennifer M. Huang, Madeline Y. Hughes, Saumya S. Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, Sarah E. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah R. McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma H. Owens, Elizabeth E. Palmer, Brooke C. Palus, Mayher J. Patel, Revathi Rajkumar, Julie C. Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah A. Schmidt, Zornitza Stark, Samuel P. Strom, Julie P. Taylor, Courtney Thaxton, Devon L. Thrush, Sabrina Toro, Kezang C. Tshering, Nicole A. Vasilevsky, Bess Wayburn, Ryan F. Webb, Anne O’Donnell-Luria, Alison J. Coffey
Published 2025-01-01Get full text
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