Resultados da busca - Laura Rust

P865: Maternal mosaicism for TRPV4 p.R269H and siblings with variable phenotypes, including prenatal ultrasound findings associated with lethality por Myra Wick, Laura Rust, Neal Niu

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P852: Prenatal whole genome sequencing to diagnosis rare presentations of hydrops fetalis por Corrine Nelson, Myra Wick, Laura Rust

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P608: Specialization in prenatal genetic counseling: Defining the role of fetal therapy genetic counselors por Emma Culter, Kestutis Micke, Laura Rust, Aarti Ramdaney

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P726: Genome sequencing (GS) in deceased neonate revealed loss-of-function MECOM variant highlighting clinical utility of GS as first-tier testing por Sarah Barnett, Laura Rust, Alanna Cera, Lidija Gorsic, Nicole Boczek

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P665: Genome sequencing defines the breakpoints of a TP53 promoter region deletion required for the purpose of preimplantation genetic testing por Nisha Kanwar, Lidija Gorsic, Laura Rust, Nicole Hoppman, Wei Shen, Myra Wick

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P411: Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype por Laura Rust, Paige Hazelton, Joseph Farris, Matheus Wilke, Eric Klee, Whitney Thompson, Sarah Thurman, Lisa Schimmenti, Brendan Lanpher

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P086: Mosaic Li-Fraumeni syndrome identified in patient with a previously presumed germline variant following preimplantation genetic testing: A case report por Rhianna Urban, Megan Holdren, Megan Hoenig, Laura Rust, Myra Wick, Matthew Ferber, Zhiyv Niu, Sounak Gupta, Wei Shen

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P238: Diagnostic yield of ultra-rapid whole genome sequencing in the NICU: A retrospective review of 324 cases at a single institution por Radhika Dhamija, Hala Deeb, Laura Rust, Brendan Lanpher, Whitney Thompson, Ellen Bendel-Stenzel, Paige Ridder, Shelby Wellmann, Joan Steyermark, Lisa Schimmenti, Pavel Pichurin, David Deyle, Khoon Ghee Queening Tan, Ralitza Gavrilova, Dusica Babovic-Vuksanovic, Ethylin Jabs

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