Výsledky vyhledávání - Benjamin Helm

P259: Characterization of 297 NICU patients with congenital anomalies evaluated with genome sequencing Autor Tejasvi Kakani, Caroline Parker, Benjamin Helm, Samardeep Gurudatta, Lindsey Helvaty, Liesbeth Vossaert, Matthew Durbin, Theodore Wilson, Stephanie Ware, Kristen Suhrie

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P171: Yield of different genomic testing approaches in infants with congenital heart disease Autor 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

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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 Autor 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

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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) Autor 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

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P626: Enhancing ultra-rare disease diagnoses through multi-omics integration and multi-site collaboration in the Indiana University Undiagnosed Rare Disease Clinic (URDC) cohort Autor Khurram Liaqat, Kayla Treat, Lili Mantcheva, Marco Abreu, Tae-Hwi Schwantes-An, Kevin Booth, Marwan Tayeh, Summan Thahiem, Benjamin Helm, Brett Graham, Patrick Gillespie, Stephanie Ware, Erin Conboy, Francesco Vetrini

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