Showing 1 - 6 results of 6 for search 'Erin Conboy', query time: 0.02s
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P322: Case report: A splice site variant in COL4A6 may cause recurrent stroke by Khurram Liaqat, Francesco Vetrini, Erin Conboy, Kayla Treat, Kevin Booth
Published 2024-01-01
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P237: A de novo gain-of-function ANO5 variant in a patient with anoctaminopathy5-related muscular dystrophy challenges the skeletal/muscular phenotype dichotomy into question by Reynold Ly, Kayla Treat, Brett Graham, Erin Conboy, Anna Boccaccio, Francesco Vetrini
Published 2023-01-01
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P171: Yield of different genomic testing approaches in infants with congenital heart disease by Gabrielle Geddes, Erin Conboy, Sara Fitzgerald-Butt, Benjamin Helm, Evan-Jacob Garcia, Laura Haneline, Riad Lutfi, Larry Markham, Melinda Markham, Kelly Schmit, Kayleigh Swaggart, Stephanie Ware
Published 2023-01-01
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P433: A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III by Muqsit Buchh, Patrick Gillespie, Kayla Treat, Marco Abreu, Tae-Hwi Schwantes-An, Benjamin Helm, Fang Fang, Xaoling Xuei, Lili Mantcheva, Kristen Suhrie, Brett Graham, Erin Conboy, Francesco Vetrini
Published 2023-01-01
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P535: The undiagnosed rare disease clinic program of Indiana University: Lessons learned from the first 100 patients enrolled (Phase-I pilot) by Khurram Liaqat, Francesco Vetrini, Erin Conboy, Kayla Treat, Lili Mantcheva, Marco Abreu, Tae-Hwi Schwantes-An, Kevin Booth, Reynold Ly, Amy Breman, Marwan Tayeh, Benjamin Helm, Brett Graham, Stephanie Ware
Published 2024-01-01
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P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature by Kevin Booth, Sharayu Jangam, Martin Man Chun Chui, Kayla Treat, Lorenzo Graziani, Alessia Soldano, Kerry White, Celanie Christensen, Ty Lynnes, Shinya Yamamoto, Oguz Kanca, Mandy Tsang, Sally Lynch, Sureni Mullegama, Julia Baptista, Daniela Iancu, Shelag Joss, Christopher CY Mak, Anna Kwong, Hugo Bellen, Erin Conboy, Remo Sanges, Michael F. Wangler, Brian Hon-Yin Chung, Francesco Vetrini
Published 2024-01-01
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