Výsledky vyhledávání - Filipa M Lopes

Predicting congenital renal tract malformation genes using machine learning Autor Mitra Kabir, Helen M. Stuart, Filipa M. Lopes, Elisavet Fotiou, Bernard Keavney, Andrew J. Doig, Adrian S. Woolf, Kathryn E. Hentges

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Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome Autor Filipa M Lopes, Celine Grenier, Benjamin W Jarvis, Sara Al Mahdy, Adrian Lène-McKay, Alison M Gurney, William G Newman, Simon N Waddington, Adrian S Woolf, Neil A Roberts

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Case Report: Prolonged survival in Schinzel–Giedion syndrome featuring megaureter and de novo SETBP1 mutation Autor Glenda M. Beaman, Glenda M. Beaman, Benjamin W. Jarvis, Anju Goyal, David J. B. Keene, Max Cervellione, Filipa M. Lopes, Kay A. Metcalfe, Adrian S. Woolf, William G. Newman, William G. Newman

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Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele Autor Caroline M. Kolvenbach, Caroline M. Kolvenbach, Caroline M. Kolvenbach, Öznur Yilmaz, Filipa M. Lopes, Jeshurun C. Kalanithy, Jeshurun C. Kalanithy, Katharina Lemberg, Katharina Lemberg, Vineeta Sharma, Amar J. Majmundar, Matthias Geyer, Adrian S. Woolf, Friedhelm Hildebrandt, Benjamin Odermatt, Benjamin Odermatt, Heiko Reutter

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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies Autor Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

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