Showing 1 - 5 results of 5 for search 'Bobbi McGivern', 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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De novo missense variants in CHTF18: The potential to expand the clinical spectrum of cohesinopathies by Erfan Aref-Eshghi, Ingrid M. Wentzensen, Tawfeg Ben-Omran, Reem Ibrahim Bux, Nina B. Gold, Erin McRoy, Hoanh Nguyen, Lauren O’Grady, Shao Ching Tu, Yanmin Chen, Leandra Folk, Bobbi McGivern
Published 2025-10-01Get full text
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Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies by Michelle M. Morrow, Erin Torti, Bobbi McGivern, Ryan Gates, Mir Reza Bekheirnia, Nasim Bekheirnia, Leandra Folk, Shannon Holtrop, Timothy Blake Palculict, Olivia L. Redlich, Adi Reich, Maria J. Guillen Sacoto, Lisong Shi, Ingrid M. Wentzensen, Kirsty McWalter
Published 2025-07-01Get 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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