檢索結果 - Liston, Eriskay

Return of genetic and genomic research findings: experience of a pediatric biorepository 由 Papaz, Tanya, Liston, Eriskay, Zahavich, Laura, Stavropoulos, Dimitri J., Jobling, Rebekah K., Kim, Raymond H., Reuter, Miriam, Miron, Anastasia, Oechslin, Erwin, Mondal, Tapas, Bergin, Lynn, Smythe, John F., Altamirano-Diaz, Luis, Lougheed, Jane, Yao, Roderick, Akinrinade, Oyediran, Breckpot, Jeroen, Mital, Seema

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Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting 由 Cohn, Iris, Manshaei, Roozbeh, Liston, Eriskay, Okello, John B. A., Khan, Reem, Curtis, Meredith R., Krupski, Abby J., Jobling, Rebekah K., Kalbfleisch, Kelsey, Paton, Tara A., Reuter, Miriam S., Hayeems, Robin Z., Verstegen, Ruud H. J., Goldman, Aaron, Kim, Raymond H., Ito, Shinya

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Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome 由 Hosseini, S. Mohsen, Kim, Raymond, Udupa, Sharmila, Costain, Gregory, Jobling, Rebekah, Liston, Eriskay, Jamal, Seema M., Szybowska, Marta, Morel, Chantal F., Bowdin, Sarah, Garcia, John, Care, Melanie, Sturm, Amy C., Novelli, Valeria, Ackerman, Michael J., Ware, James S., Hershberger, Ray E., Wilde, Arthur A.M., Gollob, Michael H.

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Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot 由 Reuter, Miriam S., Jobling, Rebekah, Chaturvedi, Rajiv R., Manshaei, Roozbeh, Costain, Gregory, Heung, Tracy, Curtis, Meredith, Hosseini, S. Mohsen, Liston, Eriskay, Lowther, Chelsea, Oechslin, Erwin, Sticht, Heinrich, Thiruvahindrapuram, Bhooma, Mil, Spencer van, Wald, Rachel M., Walker, Susan, Marshall, Christian R., Silversides, Candice K., Scherer, Stephen W., Kim, Raymond H., Bassett, Anne S.

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The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease 由 Reuter, Miriam S., Chaturvedi, Rajiv R., Liston, Eriskay, Manshaei, Roozbeh, Aul, Ritu B., Bowdin, Sarah, Cohn, Iris, Curtis, Meredith, Dhir, Priya, Hayeems, Robin Z., Hosseini, S. Mohsen, Khan, Reem, Ly, Linh G., Marshall, Christian R., Mertens, Luc, Okello, John B. A., Pereira, Sergio L., Raajkumar, Akshaya, Seed, Mike, Thiruvahindrapuram, Bhooma, Scherer, Stephen W., Kim, Raymond H., Jobling, Rebekah K.

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Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences 由 Manshaei, Roozbeh, Merico, Daniele, Reuter, Miriam S., Engchuan, Worrawat, Mojarad, Bahareh A., Chaturvedi, Rajiv, Heung, Tracy, Pellecchia, Giovanna, Zarrei, Mehdi, Nalpathamkalam, Thomas, Khan, Reem, Okello, John B. A., Liston, Eriskay, Curtis, Meredith, Yuen, Ryan K. C., Marshall, Christian R., Jobling, Rebekah K., Oechslin, Erwin, Wald, Rachel M., Silversides, Candice K., Scherer, Stephen W., Kim, Raymond H., Bassett, Anne S.

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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay 由 Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Bearden, David R., Stray-Pedersen, Asbjorg, Busk, Oyvind L., Stong, Nicholas, Liston, Eriskay, Cohn, Ronald D., Scaglia, Fernando, Rosenfeld, Jill A., Tarpinian, Jennifer, Skraban, Cara M., Deardorff, Matthew A., Friedman, Jeremy N., Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A., Kranz, Peter G., Jasien, Joan, McConkie-Rosell, Allyn, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Nelson, Stanley F., Lee, Hane, Dorrani, Naghmeh, Goldstein, David B., Xiao, Rui, Yang, Yaping, Posey, Jennifer E., Martinez-Agosto, Julian A., Lupski, James R., Wangler, Michael F., Shashi, Vandana

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Recommendations for the Integration of Genomics into Clinical Practice 由 Bowdin, Sarah, Gilbert, Adel, Bedoukian, Emma, Carew, Christopher, Adam, Margaret P, Belmont, John, Bernhardt, Barbara, Biesecker, Leslie, Bjornsson, Hans T., Blitzer, Miriam, D’Alessandro, Lisa C. A., Deardorff, Matthew A., Demmer, Laurie, Elliott, Alison, Feldman, Gerald L., Glass, Ian A., Herman, Gail, Hindorff, Lucia, Hisama, Fuki, Hudgins, Louanne, Innes, A. Micheil, Jackson, Laird, Jarvik, Gail, Kim, Raymond, Korf, Bruce, Ledbetter, David H., Li, Mindy, Liston, Eriskay, Marshall, Christian, Medne, Livija, Meyn, M. Stephen, Monfared, Nasim, Morton, Cynthia, Mulvihill, John J., Plon, Sharon E., Rehm, Heidi, Roberts, Amy, Shuman, Cheryl, Spinner, Nancy B., Stavropoulos, D. James, Valverde, Kathleen, Waggoner, Darrel J., Wilkens, Alisha, Cohn, Ronald D., Krantz, Ian D.

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Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine 由 Stavropoulos, Dimitri J, Merico, Daniele, Jobling, Rebekah, Bowdin, Sarah, Monfared, Nasim, Thiruvahindrapuram, Bhooma, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Yuen, Ryan K C, Szego, Michael J, Hayeems, Robin Z, Shaul, Randi Zlotnik, Brudno, Michael, Girdea, Marta, Frey, Brendan, Alipanahi, Babak, Ahmed, Sohnee, Babul-Hirji, Riyana, Porras, Ramses Badilla, Carter, Melissa T, Chad, Lauren, Chaudhry, Ayeshah, Chitayat, David, Doust, Soghra Jougheh, Cytrynbaum, Cheryl, Dupuis, Lucie, Ejaz, Resham, Fishman, Leona, Guerin, Andrea, Hashemi, Bita, Helal, Mayada, Hewson, Stacy, Inbar-Feigenberg, Michal, Kannu, Peter, Karp, Natalya, Kim, Raymond H, Kronick, Jonathan, Liston, Eriskay, MacDonald, Heather, Mercimek-Mahmutoglu, Saadet, Mendoza-Londono, Roberto, Nasr, Enas, Nimmo, Graeme, Parkinson, Nicole, Quercia, Nada, Raiman, Julian, Roifman, Maian, Schulze, Andreas, Shugar, Andrea, Shuman, Cheryl, Sinajon, Pierre, Siriwardena, Komudi, Weksberg, Rosanna, Yoon, Grace, Carew, Chris, Erickson, Raith, Leach, Richard A, Klein, Robert, Ray, Peter N, Meyn, M Stephen, Scherer, Stephen W, Cohn, Ronald D, Marshall, Christian R

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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 由 Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K, Mirchi, Amytice, Saikali, Stephan, Tran, Luan T, Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M L, Naidu, Sakkubai, Pohl, Daniela, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M, Innes, A Micheil, Kauffman, Marcelo, Kirwin, Susan M, Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Moutton, Sebastien, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K, Stevens, Cathy A, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I, Bernard, Geneviève

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