نتائج البحث - Harr, Margaret

Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines حسب Li, Mindy, Glass, Jennifer, Du, Xiaoli, Dubbs, Holly, Harr, Margaret Horton, Falk, Marni, Smolarek, Teresa, Hopkin, Robert J., Zackai, Elaine, Sheppard, Sarah E.

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EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features حسب Ganetzky, Rebecca, Finn, Erin, Bagchi, Atrish, Zollo, Ornella, Conlin, Laura, Deardorff, Matthew, Harr, Margaret, Simpson, Michael A, McGrath, John A, Zackai, Elaine, Lemmon, Mark A, Sondheimer, Neal

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Implementing Pharmacogenetic Testing in Gastrointestinal Cancers (IMPACT-GI): Study Protocol for a Pragmatic Implementation Trial for Establishing DPYD and UGT1A1 Screening to Guid... حسب Varughese, Lisa A., Bhupathiraju, Madhuri, Hoffecker, Glenda, Terek, Shannon, Harr, Margaret, Hakonarson, Hakon, Cambareri, Christine, Marini, Jessica, Landgraf, Jeffrey, Chen, Jinbo, Kanter, Genevieve, Lau-Min, Kelsey S., Massa, Ryan C., Damjanov, Nevena, Reddy, Nandi J., Oyer, Randall A., Teitelbaum, Ursina R., Tuteja, Sony

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Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs حسب Williams, Janet L., Chung, Wendy K., Fedotov, Alex, Kiryluk, Krzysztof, Weng, Chunhua, Connolly, John J., Harr, Margaret, Hakonarson, Hakon, Leppig, Kathleen A., Larson, Eric B., Jarvik, Gail P., Veenstra, David L., Hoell, Christin, Smith, Maureen E., Holm, Ingrid A., Peterson, Josh F., Williams, Marc S.

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Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 حسب Nair, Divya, Li, Dong, Erdogan, Hannah, Yoon, Andrew, Harr, Margaret H., Bergant, Gaber, Peterlin, Borut, Škrjanec Pušenjak, Maruša, Jayakar, Parul, Pfundt, Rolph, Jansen, Sandra, McWalter, Kirsty, Sidhu, Alpa, Saliganan, Sheila, Agolini, Emanuele, Jacob, Arthur, Pasquier, Jennifer, Arash, Rafii, Kahrizi, Kimia, Najmabadi, Hossein, Ropers, Hans-Hilger, Bhoj, Elizabeth J.

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Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 حسب Nair, Divya, Li, Dong, Erdogan, Hannah, Yoon, Andrew, Harr, Margaret H., Bergant, Gaber, Peterlin, Borut, Pušenjak, Maruša Škrjanec, Jayakar, Parul, Pfundt, Rolph, Jansen, Sandra, McWalter, Kirsty, Sidhu, Alpa, Saliganan, Sheila, Agolini, Emanuele, Jacob, Arthur, Pasquier, Jennifer, Arash, Rafii, Kahrizi, Kimia, Najmabadi, Hossein, Ropers, Hans-Hilger, Bhoj, Elizabeth J.

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Participant choices for return of genomic results in the eMERGE Network حسب Hoell, Christin, Wynn, Julia, Rasmussen, Luke V., Marsolo, Keith, Aufox, Sharon A., Chung, Wendy K., Connolly, John J., Freimuth, Robert R., Kochan, David, Hakonarson, Hakon, Harr, Margaret, Holm, Ingrid A., Kullo, Iftikhar J., Lammers, Philip E., Leppig, Kathleen A., Leslie, Nancy D., Myers, Melanie F., Sharp, Richard R., Smith, Maureen E., Prows, Cynthia A.

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Practice Patterns after Return of Rare Variants Associated with Cardiomyopathy in the electronic MEdical Records and GEnomics (eMERGE) Network حسب Khan, Sadiya S., Hoell, Christin, Castillo, Lisa M., Connolly, John J., Crosslin, David R., Chung, Wendy K., Gordon, Adam S., Harr, Margaret, Jarvik, Gail P., Kullo, Iftikhar, Larson, Eric B., Leppig, Kathleen A., Manolio, Teri, Pacheco, Jennifer A., Ralston, James D., Puckelwartz, Megan J., Smith, Maureen E., Wells, Quinn, McNally, Elizabeth M., Rasmussen-Torvik, Laura J.

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Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome حسب Kruszka, Paul, Li, Dong, Harr, Margaret H, Wilson, Nathan R, Swarr, Daniel, McCormick, Elizabeth M, Chiavacci, Rosetta M, Li, Mindy, Martinez, Ariel F, Hart, Rachel A, McDonald-McGinn, Donna M, Deardorff, Matthew A, Falk, Marni J, Allanson, Judith E, Hudson, Cindy, Johnson, John P, Saadi, Irfan, Hakonarson, Hakon, Muenke, Maximilian, Zackai, Elaine H

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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia حسب Bhoj, Elizabeth J., Li, Dong, Harr, Margaret, Edvardson, Shimon, Elpeleg, Orly, Chisholm, Elizabeth, Juusola, Jane, Douglas, Ganka, Guillen Sacoto, Maria J., Siquier-Pernet, Karine, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Narravula, Alekhya, Walke, Maria, Horner, Michele B., Day-Salvatore, Debra-Lynn, Jayakar, Parul, Vergano, Samantha A. Schrier, Tarnopolsky, Mark A., Hegde, Madhuri, Colleaux, Laurence, Crino, Peter, Hakonarson, Hakon

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Mutations in topoisomerase IIβ result in a B cell immunodeficiency حسب Broderick, Lori, Yost, Shawn, Li, Dong, McGeough, Matthew D., Booshehri, Laela M., Guaderrama, Marisela, Brydges, Susannah D., Kucharova, Karolina, Patel, Niraj C., Harr, Margaret, Hakonarson, Hakon, Zackai, Elaine, Cowell, Ian G., Austin, Caroline A., Hügle, Boris, Gebauer, Corinna, Zhang, Jianguo, Xu, Xun, Wang, Jian, Croker, Ben A., Frazer, Kelly A., Putnam, Christopher D., Hoffman, Hal M.

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De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea حسب Xia, Fan, Bainbridge, Matthew N., Tan, Tiong Yang, Wangler, Michael F., Scheuerle, Angela E., Zackai, Elaine H., Harr, Margaret H., Sutton, V. Reid, Nalam, Roopa L., Zhu, Wenmiao, Nash, Margot, Ryan, Monique M., Yaplito-Lee, Joy, Hunter, Jill V., Deardorff, Matthew A., Penney, Samantha J., Beaudet, Arthur L., Plon, Sharon E., Boerwinkle, Eric A., Lupski, James R., Eng, Christine M., Muzny, Donna M., Yang, Yaping, Gibbs, Richard A.

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Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience حسب Fossey, Robyn, Kochan, David, Winkler, Erin, Pacyna, Joel E., Olson, Janet, Thibodeau, Stephen, Connolly, John J., Harr, Margaret, Behr, Meckenzie A., Prows, Cynthia A., Cobb, Beth, Myers, Melanie F., Leslie, Nancy D., Namjou-Khales, Bahram, Milo Rasouly, Hila, Wynn, Julia, Fedotov, Alexander, Chung, Wendy K., Gharavi, Ali, Williams, Janet L., Pais, Lynn, Holm, Ingrid, Aufox, Sharon, Smith, Maureen E., Scrol, Aaron, Leppig, Kathleen, Jarvik, Gail P., Wiesner, Georgia L., Li, Rongling, Stroud, Mary, Smoller, Jordan W., Sharp, Richard R., Kullo, Iftikhar J.

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Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment حسب Fiordaliso, Sarah K., Iwata-Otsubo, Aiko, Ritter, Alyssa L., Quesnel-Vallières, Mathieu, Fujiki, Katsunori, Nishi, Eriko, Hancarova, Miroslava, Miyake, Noriko, Morton, Jenny E.V., Lee, Sangmoon, Hackmann, Karl, Bando, Masashige, Masuda, Koji, Nakato, Ryuichiro, Arakawa, Michiko, Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Takeda, Ryojun, Harr, Margaret, Keena, Beth, Zackai, Elaine H., Okamoto, Nobuhiko, Mizuno, Seiji, Ko, Jung Min, Valachova, Alica, Prchalova, Darina, Vlckova, Marketa, Pippucci, Tommaso, Seiler, Christoph, Choi, Murim, Matsumoto, Naomichi, Di Donato, Nataliya, Barash, Yoseph, Sedlacek, Zdenek, Shirahige, Katsuhiko, Izumi, Kosuke

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Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network حسب Lynch, John A., Sharp, Richard R., Aufox, Sharon A., Bland, Sarah T., Blout, Carrie, Bowen, Deborah J., Buchanan, Adam H., Halverson, Colin, Harr, Margaret, Hebbring, Scott J., Henrikson, Nora, Hoell, Christin, Holm, Ingrid A., Jarvik, Gail, Kullo, Iftikhar J., Kochan, David C., Larson, Eric B., Lazzeri, Amanda, Leppig, Kathleen A., Madden, Jill, Marasa, Maddalena, Myers, Melanie F., Peterson, Josh, Prows, Cynthia A., Kulchak Rahm, Alanna, Ralston, James, Milo Rasouly, Hila, Scrol, Aaron, Smith, Maureen E., Sturm, Amy, Stuttgen, Kelsey, Wiesner, Georgia, Williams, Marc S., Wynn, Julia, Williams, Janet L.

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Do research participants share genomic screening results with family members? حسب Wynn, Julia, Rasouly, Hila Milo, Vasquez-Loarte, Tania, Saami, Akilan M., Weiss, Robyn, Ziniel, Sonja I., Appelbaum, Paul S., Clayton, Ellen Wright, Christensen, Kurt D., Fasel, David, Green, Robert C., Hain, Heather S., Harr, Margaret, Hoell, Christin, Kullo, Iftikhar J, Leppig, Kathleen A., Myers, Melanie F., Pacyna, Joel E., Perez, Emma F., Prows, Cynthia A., Rahm, Alanna Kulchak, Campbell-Salome, Gemme, Sharp, Richard R., Smith, Maureen E, Wiesner, Georgia L., Williams, Janet L., Zawatsky, Carrie L. Blout, Gharavi, Ali G., Chung, Wendy K., Holm, Ingrid A.

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Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network حسب Wiesner, Georgia L., Kulchak Rahm, Alanna, Appelbaum, Paul, Aufox, Sharon, Bland, Sarah T., Blout, Carrie L., Christensen, Kurt D., Chung, Wendy K., Clayton, Ellen Wright, Green, Robert C., Harr, Margaret H., Henrikson, Nora, Hoell, Christin, Holm, Ingrid A., Jarvik, Gail P., Kullo, Iftikhar J., Lammers, Philip E., Larson, Eric B., Lindor, Noralane M., Marasa, Maddalena, F. Myers, Melanie, Peterson, Josh F., Prows, Cynthia A., Ralston, James D., Milo Rasouly, Hila, Sharp, Richard R., Smith, Maureen E., Van Driest, Sara L., Williams, Janet L., Williams, Marc S., Wynn, Julia, Leppig, Kathleen A.

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Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy حسب Batzir, Nurit Assia, Bhagwat, Pranjali K., Larson, Austin, Akdemir, Zeynep C., Bagłaj, Maciej, Bofferding, Leon, Bosanko, Katherine B., Bouassida, Skander, Callewaert, Bert, Cannon, Ashley, Colon, Yazmin E., Garnica, Adolfo D., Harr, Margaret H., Heck, Sandra, Hurst, Anna C., Jhangiani, Shalini N., Isidor, Bertrand, Littlejohn, Rebecca O., Liu, Pengfei, Magoulas, Pilar, Fan, Helen Mar, Marom, Ronit, McLean, Scott, Nezarati, Marjan M., Nugent, Kimberly M., Petersen, Michael B., Rocha, Maria L., Roeder, Elizabeth, Smigiel, Robert, Tully, Ian, Weisfeld-Adams, James, Wells, Katerina O., Lupski, James R., Beaudet, Arthur L., Wangler, Michael F.

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Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants حسب Johnston, Jennifer J., van der Smagt, Jasper J., Rosenfeld, Jill A., Pagnamenta, Alistair T., Alswaid, Abdulrahman, Baker, Eva H., Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, Vu Chi, Emrick, Lisa, Everman, David B., van Gassen, Koen L., Gulsuner, Suleyman, Harr, Margaret H., Jain, Mahim, Kuechler, Alma, Leppig, Kathleen A., McDonald-McGinn, Donna M., Ngoc, Can Thi Bich, Peleg, Amir, Roeder, Elizabeth R., Rogers, R. Curtis, Sagi-Dain, Lena, Sapp, Julie C., Schäffer, Alejandro A., Schanze, Denny, Stewart, Helen, Taylor, Jenny C., Verbeek, Nienke E., Walkiewicz, Magdalena A., Zackai, Elaine H., Zweier, Christiane, Zenker, Martin, Lee, Brendan, Biesecker, Leslie G.

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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update حسب Huang, Lijia, Vanstone, Megan R., Hartley, Taila, Osmond, Matthew, Barrowman, Nick, Allanson, Judith, Baker, Laura, Dabir, Tabib A., Dipple, Katrina M., Dobyns, William B., Estrella, Jane, Faghfoury, Hanna, Favaro, Francine P., Goel, Himanshu, Gregersen, Pernille A., Gripp, Karen W., Grix, Art, Guion-Almeida, Maria-Leine, Harr, Margaret H., Hudson, Cindy, Hunter, Alasdair G.W., Johnson, John, Joss, Shelagh K., Kimball, Amy, Kini, Usha, Kline, Antonie D., Lauzon, Julie, Lildballe, Dorte L., López-González, Vanesa, Martinezmoles, Johanna, Meldrum, Cliff, Mirzaa, Ghayda M., Morel, Chantal F., Morton, Jenny E.V., Pyle, Louise C., Quintero-Rivera, Fabiola, Richer, Julie, Scheuerle, Angela E., Schönewolf-Greulich, Bitten, Shears, Deborah J., Silver, Josh, Smith, Amanda C., Temple, I. Karen, van de Kamp, Jiddeke M., van Dijk, Fleur S., Vandersteen, Anthony M., White, Sue M., Zackai, Elaine H., Zou, Ruobing, Bulman, Dennis E., Boycott, Kym M., Lines, Matthew A.

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