Kết quả tìm kiếm - Vincent, Lisa M.

Reclassification of the BRAF p.Ile208Val variant by case-level data sharing Bằng Grant, Andrew R., Hemphill, Sarah E., Vincent, Lisa M., Rehm, Heidi L.

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Coagulation factor V(A2440G) causes east Texas bleeding disorder via TFPIα Bằng Vincent, Lisa M., Tran, Sinh, Livaja, Ruzica, Bensend, Tracy A., Milewicz, Dianna M., Dahlbäck, Björn

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Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine Bằng Garber, Kathryn B., Vincent, Lisa M., Alexander, John J., Bean, Lora J.H., Bale, Sherri, Hegde, Madhuri

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Hermansky-Pudlak Syndrome Type 1 in Patients of Indian Descent Bằng Vincent, Lisa M., Adams, David, Hess, Richard A., Ziegler, Shira G., Tsilou, Ekaterini, Golas, Gretchen, O'Brien, Kevin J., White, James G., Huizing, Marjan, Gahl, William A.

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ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation Bằng Gelb, Bruce D., Cavé, Hélène, Dillon, Mitchell W., Gripp, Karen W., Lee, Jennifer A., Mason-Suares, Heather, Rauen, Katherine A., Williams, Bradley, Zenker, Martin, Vincent, Lisa M.

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Hermansky-Pudlak Syndrome in Two African-American Brothers Bằng Merideth, Melissa A., Vincent, Lisa M., Sparks, Susan E., Hess, Richard A., Manoli, Irini, O’Brien, Kevin J., Tsilou, Ekaterina, White, James G., Huizing, Marjan, Gahl, William A.

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Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome type 2 Bằng Vincent, Lisa M., Gilbert, Fred, DiPace, Jennifer I., Ciccone, Carla, Markello, Thomas C., Jeong, Andrew, Dorward, Heidi, Westbroek, Wendy, Gahl, William A., Bussel, James B., Huizing, Marjan

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Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework Bằng Grant, Andrew R., Cushman, Brandon J., Cavé, Hélène, Dillon, Mitchell W., Gelb, Bruce D., Gripp, Karen W., Lee, Jennifer A., Mason-Suares, Heather, Rauen, Katherine A., Tartaglia, Marco, Vincent, Lisa M., Zenker, Martin

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ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation... Bằng Rivera-Muñoz, Edgar A., Milko, Laura V., Harrison, Steven, Azarriti, Danielle, Kurtz, C. Lisa, Lee, Kristy, Mester, Jessica L., Weaver, Meredith A., Currey, Erin, Craigen, William, Eng, Charis, Funke, Birgit, Hegde, Madhuri, Hershberger, Ray E., Mao, Rong, Steiner, Robert D., Vincent, Lisa M., Martin, Christa L., Plon, Sharon E., Ramos, Erin, Rehm, Heidi, Watson, Michael, Berg, Jonathan S.

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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Exp... Bằng Kelly, Melissa A, Caleshu, Colleen, Morales, Ana, Buchan, Jillian, Wolf, Zena, Harrison, Steven M, Cook, Stuart, Dillon, Mitchell W, Garcia, John, Haverfield, Eden, Jongbloed, Jan D H, Macaya, Daniela, Manrai, Arjun, Orland, Kate, Richard, Gabriele, Spoonamore, Katherine, Thomas, Matthew, Thomson, Kate, Vincent, Lisa M, Walsh, Roddy, Watkins, Hugh, Whiffin, Nicola, Ingles, Jodie, van Tintelen, J Peter, Semsarian, Christopher, Ware, James S, Hershberger, Ray, Funke, Birgit

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Scaling Resolution of Variant Classification Differences in ClinVar between 41 Clinical Laboratories Through an Outlier Approach Bằng Harrison, Steven M., Dolinksy, Jill S., Chen, Wenjie, Collins, Christin D., Das, Soma, Deignan, Joshua L., Garber, Kathryn B., Garcia, John, Jarinova, Olga, Knight Johnson, Amy E., Koskenvuo, Juha W., Lee, Hane, Mao, Rong, Mar-Heyming, Rebecca, McFaddin, Andrew, Moyer, Krista, Nagan, Narasimhan, Rentas, Stefan, Santani, Avni B., Seppälä, Eija H., Shirts, Brian, Tidwell, Timothy, Topper, Scott, Vincent, Lisa M., Vinette, Kathy, Rehm, Heidi L.

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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome Bằng Capri, Yline, Flex, Elisabetta, Krumbach, Oliver H.F., Carpentieri, Giovanna, Cecchetti, Serena, Lißewski, Christina, Rezaei Adariani, Soheila, Schanze, Denny, Brinkmann, Julia, Piard, Juliette, Pantaleoni, Francesca, Lepri, Francesca R., Goh, Elaine Suk-Ying, Chong, Karen, Stieglitz, Elliot, Meyer, Julia, Kuechler, Alma, Bramswig, Nuria C., Sacharow, Stephanie, Strullu, Marion, Vial, Yoann, Vignal, Cédric, Kensah, George, Cuturilo, Goran, Kazemein Jasemi, Neda S., Dvorsky, Radovan, Monaghan, Kristin G., Vincent, Lisa M., Cavé, Hélène, Verloes, Alain, Ahmadian, Mohammad R., Tartaglia, Marco, Zenker, Martin

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Noonan Syndrome in Diverse Populations Bằng Kruszka, Paul, Porras, Antonio R., Addissie, Yonit A., Moresco, Angélica, Medrano, Sofia, Mok, Gary TK, Leung, Gordon KC, Tekendo-Ngongang, Cedrik, Uwineza, Annette, Thong, Meow-Keong, Muthukumarasamy, Premala, Honey, Engela, Ekure, Ekanem Nsikak, Sokunbi, Ogochukwu Jidechukwu, Kalu, Nnenna, Jones, Kelly L., Kaplan, Julie D., Abdul-Rahman, Omar A., Vincent, Lisa M., Love, Amber, Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Shukla, Anju, Girisha, Katta M., Patil, Siddaramappa Jagdish, Sirisena, Nirmala D., Dissanayake, Vajira H.W., Paththinige, C. Sampath, Mishra, Rupesh, Klein-Zighelboim, Eva, Gallardo Jugo, Bertha Elena, Chávez Pastor, Miguel, Barriga, Hugo Hernán Abarca, Skinner, Steven A., Prijoles, E.J., Badoe, Eben, Gill, Ashleigh D., Shotelersuk, Vorasuk, Smpokou, Patroula, Kisling, Monisha S., Ferreira, Carlos R., Mutesa, Leon, Megarbane, Andre, Okello, Emmy, Lwabi, Peter, Aliku, Twalib, Tenywa, Emmanuel, Boonchooduang, Nonglak, Tanpaiboon, Pranoot, Richieri-Costa, Antonio, Wonkam, Ambroise, Chung, Brian H. Y., Stevenson, Roger E., Summar, Marshall, Obregon, María Gabriela, Linguraru, Marius George, Muenke, Maximilian

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