תוצאות חיפוש - Richholt, Ryan

Age-Modulated Associations between KIBRA, Brain Volume, and Verbal Memory among Healthy Older Adults מאת Stickel, Ariana, Kawa, Kevin, Walther, Katrin, Glisky, Elizabeth, Richholt, Ryan, Huentelman, Matt, Ryan, Lee

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Rare Variants in Cardiomyopathy Genes Associated With Stress-Induced Cardiomyopathy מאת Kalani, M. Yashar S., Siniard, Ashley L., Corneveaux, Jason J., Bruhns, Ryan, Richholt, Ryan, Forseth, James, Zabramski, Joseph M., Nakaji, Peter, Spetzler, Robert F., Huentelman, Matthew J.

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Analytic validation and clinical utilization of the comprehensive genomic profiling test, GEM ExTra(®) מאת White, Tracey, Szelinger, Szabolcs, LoBello, Janine, King, Amy, Aldrich, Jessica, Garinger, Nathan, Halbert, Matthew, Richholt, Ryan F., Mastrian, Stephen D., Babb, Cody, Ozols, Audrey A., Goodman, Laurie J., Basu, Gargi D., Royce, Thomas

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Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers מאת Huentelman, Matthew J., Piras, Ignazio S., Siniard, Ashley L., De Both, Matthew D., Richholt, Ryan F., Balak, Chris D., Jamshidi, Pouya, Bigio, Eileen H., Weintraub, Sandra, Loyer, Emmaleigh T., Mesulam, M.-Marsel, Geula, Changiz, Rogalski, Emily J.

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A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome מאת Schrauwen, Isabelle, Szelinger, Szabolcs, Siniard, Ashley L., Kurdoglu, Ahmet, Corneveaux, Jason J., Malenica, Ivana, Richholt, Ryan, Van Camp, Guy, De Both, Matt, Swaminathan, Shanker, Turk, Mari, Ramsey, Keri, Craig, David W., Narayanan, Vinodh, Huentelman, Matthew J.

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A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex מאת You, Jing, Sobreira, Nara L., Gable, Dustin L., Jurgens, Julie, Grange, Dorothy K., Belnap, Newell, Siniard, Ashley, Szelinger, Szabolcs, Schrauwen, Isabelle, Richholt, Ryan F., Vallee, Stephanie E., Dinulos, Mary Beth P., Valle, David, Armanios, Mary, Hoover-Fong, Julie

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Total Extracellular Small RNA Profiles from Plasma, Saliva, and Urine of Healthy Subjects מאת Yeri, Ashish, Courtright, Amanda, Reiman, Rebecca, Carlson, Elizabeth, Beecroft, Taylor, Janss, Alex, Siniard, Ashley, Richholt, Ryan, Balak, Chris, Rozowsky, Joel, Kitchen, Robert, Hutchins, Elizabeth, Winarta, Joseph, McCoy, Roger, Anastasi, Matthew, Kim, Seungchan, Huentelman, Matthew, Van Keuren-Jensen, Kendall

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Extracellular circular RNA profiles in plasma and urine of healthy, male college athletes מאת Hutchins, Elizabeth, Reiman, Rebecca, Winarta, Joseph, Beecroft, Taylor, Richholt, Ryan, De Both, Matt, Shahbander, Khalouk, Carlson, Elizabeth, Janss, Alex, Siniard, Ashley, Balak, Chris, Bruhns, Ryan, Whitsett, Timothy G., McCoy, Roger, Anastasi, Matthew, Allen, April, Churas, Brian, Huentelman, Matthew, Van Keuren-Jensen, Kendall

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A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia מאת Moskowitz, Abby M., Belnap, Newell, Siniard, Ashley L., Szelinger, Szabolcs, Claasen, Ana M., Richholt, Ryan F., De Both, Matt, Corneveaux, Jason J., Balak, Chris, Piras, Ignazio S., Russell, Megan, Courtright, Amanda L., Rangasamy, Sampath, Ramsey, Keri, Craig, David W., Narayanan, Vinodh, Huentelman, Matt J., Schrauwen, Isabelle

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Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilit... מאת Banuelos, Erika, Ramsey, Keri, Belnap, Newell, Krishnan, Malavika, Balak, Chris, Szelinger, Szabolcs, Siniard, Ashley L., Russell, Megan, Richholt, Ryan, De Both, Matt, Piras, Ignazio, Naymik, Marcus, Claasen, Ana M., Rangasamy, Sampathkumar, Huentelman, Matthew J., Craig, David W., Campeau, Philippe M., Narayanan, Vinodh, Schrauwen, Isabelle

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Canine osteosarcoma genome sequencing identifies recurrent mutations in DMD and the histone methyltransferase gene SETD2 מאת Gardner, Heather L., Sivaprakasam, Karthigayini, Briones, Natalia, Zismann, Victoria, Perdigones, Nieves, Drenner, Kevin, Facista, Salvatore, Richholt, Ryan, Liang, Winnie, Aldrich, Jessica, Trent, Jeffrey M., Shields, Peter G., Robinson, Nicholas, Johnson, Jeremy, Lana, Susan, Houghton, Peter, Fenger, Joelle, Lorch, Gwendolen, Janeway, Katherine A., London, Cheryl A., Hendricks, William P. D.

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Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1 מאת Szelinger, Szabolcs, Krate, Jonida, Ramsey, Keri, Strom, Samuel P., Shieh, Perry B., Lee, Hane, Belnap, Newell, Balak, Chris, Siniard, Ashley L., Russell, Megan, Richholt, Ryan, Both, Matt De, Claasen, Ana M., Schrauwen, Isabelle, Nelson, Stanley F., Huentelman, Matthew J., Craig, David W., Yang, Samuel P., Moore, Steven A., Sivakumar, Kumaraswamy, Narayanan, Vinodh, Rangasamy, Sampathkumar

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Transcriptome-wide association study of post-trauma symptom trajectories identified GRIN3B as a potential biomarker for PTSD development מאת Lori, Adriana, Schultebraucks, Katharina, Galatzer-Levy, Isaac, Daskalakis, Nikolaos P., Katrinli, Seyma, Smith, Alicia K., Myers, Amanda J., Richholt, Ryan, Huentelman, Matthew, Guffanti, Guia, Wuchty, Stefan, Gould, Felicia, Harvey, Philip D., Nemeroff, Charles B., Jovanovic, Tanja, Gerasimov, Ekaterina S., Maples-Keller, Jessica L., Stevens, Jennifer S., Michopoulos, Vasiliki, Rothbaum, Barbara O., Wingo, Aliza P., Ressler, Kerry J.

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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation מאת Balak, Chris, Benard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michèle, Mattioli, Francesca, Llaci, Lorida, Geoffroy, Véronique, Courel, Maité, Naymik, Marcus, Bachman, Kristine K., Pfundt, Rolph, Rump, Patrick, ter Beest, Johanna, Wentzensen, Ingrid M., Monaghan, Kristin G., McWalter, Kirsty, Richholt, Ryan, Le Béchec, Antony, Jepsen, Wayne, De Both, Matt, Belnap, Newell, Boland, Anne, Piras, Ignazio S., Deleuze, Jean-François, Szelinger, Szabolcs, Dollfus, Hélène, Chelly, Jamel, Muller, Jean, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique, Piton, Amélie

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Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy מאת Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J.V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C., Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G.F., Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L., Laube, Bodo, Syrbe, Steffen

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