Showing 1 - 6 results of 6 for search 'Lorenzo D Botto', query time: 0.02s
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A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications by Ariel Tarrell, Jessika Weber, Reem Shawar, Luca Brunelli, Susan Morelli, Pinar Bayrak-Toydemir, Elizabeth Doughty, Gulsen Akay, Lorenzo D. Botto, Emily Flemming, N. Scott Reading, Catalina Jaramillo
Published 2025-01-01Get full text
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Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencing by Ting Wen, Steven E. Boyden, Caleb M. Hocutt, Robert G. Lewis, Erin E. Baldwin, Jennie Vagher, Ashley Andrews, Thomas J. Nicholas, Alexander Chapin, Elaine M. Fan, Lorenzo D. Botto, Pinar Bayrak-Toydemir, Rong Mao, Jessica A. Meznarich
Published 2025-05-01Get full text
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Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach. by Jenil Patel, Emine Bircan, Xinyu Tang, Mohammed Orloff, Charlotte A Hobbs, Marilyn L Browne, Lorenzo D Botto, Richard H Finnell, Mary M Jenkins, Andrew Olshan, Paul A Romitti, Gary M Shaw, Martha M Werler, Jingyun Li, Wendy N Nembhard, National Birth Defects Prevention Study
Published 2021-03-01Get full text
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Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study by David Tucker, Sergey Krikov, Lorenzo D Botto, Hermien E K de Walle, Miriam Gatt, Anna Pierini, Anke Rissmann, Marian K Bakker, Jorieke E H Bergman, Emmanuelle Amar, Guido Cocchi, Janet Cragan, Boris Groisman, Wendy N Nembhard, Shanthi Chidambarathanu, Antonin Sipek Jr, Elena Szabova, Giovanna Tagliabue, Pierpaolo Mastroiacovo
Published 2019-07-01Get full text
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The burden, prevention and care of infants and children with congenital anomalies in sub-Saharan Africa: A scoping review. by Aminkeng Zawuo Leke, Helen Malherbe, Emma Kalk, Ushma Mehta, Phylis Kisa, Lorenzo D Botto, Idowu Ayede, Lee Fairlie, Nkwati Michel Maboh, Ieda Orioli, Rebecca Zash, Ronald Kusolo, Daniel Mumpe-Mwanja, Robert Serujogi, Bodo Bongomin, Caroline Osoro, Clarisse Dah, Olive Sentumbwe-Mugisha, Hamisi Kimaro Shabani, Philippa Musoke, Helen Dolk, Linda Barlow-Mosha
Published 2023-01-01Get full text
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