Showing 1 - 3 results of 3 for search 'Kristin G Monaghan', query time: 0.01s
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MGA-related syndrome: A proposed novel disorder by Bobbi McGivern, Michelle M. Morrow, Erin Torti, Kirsty McWalter, Ingrid M. Wentzensen, Kristin G. Monaghan, Amanda Gerard, Laurie Robak, David Chitayat, Claire Botsford, Sarah Jurgensmeyer, Peter Leahy, Paul Kruszka
Published 2025-01-01Get full text
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Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation by Bobbi McGivern, Tess Holling, Maria J. Guillen Sacoto, Hákon Gudbjartsson, Ibrahim M. Abdelrazek, Malik Alawi, Yan Bai, Olaf Bodamer, Amy Crunk, Amy E. Dameron, Lisa M. Dyer, Lindsay B. Henderson, Mira Irons, Kerstin Kutsche, Caroline McGowan, Kristin G. Monaghan, Kaitlyn O’Connor, Asma Rashid, Olivia L. Redlich, Adi Reich, Christopher Simotas, Sara Welner, Ingrid M. Wentzensen
Published 2025-07-01Get full text
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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy by Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha‐Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Véronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake
Published 2021-11-01Get full text
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