检索结果 - Claasen, Ana

A method to reduce ancestry related germline false positives in tumor only somatic variant calling 由 Halperin, Rebecca F., Carpten, John D., Manojlovic, Zarko, Aldrich, Jessica, Keats, Jonathan, Byron, Sara, Liang, Winnie S., Russell, Megan, Enriquez, Daniel, Claasen, Ana, Cherni, Irene, Awuah, Baffour, Oppong, Joseph, Wicha, Max S., Newman, Lisa A., Jaigge, Evelyn, Kim, Seungchan, Craig, David W.

获取全文 获取全文 获取全文

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia 由 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

获取全文 获取全文 获取全文

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilit... 由 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

获取全文 获取全文 获取全文

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1 由 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

获取全文 获取全文 获取全文

The Pharmacogenomics of Bipolar Disorder study (PGBD): identification of genes for lithium response in a prospective sample 由 Oedegaard, Ketil J., Alda, Martin, Anand, Anit, Andreassen, Ole A., Balaraman, Yokesh, Berrettini, Wade H., Bhattacharjee, Abesh, Brennand, Kristen J., Burdick, Katherine E., Calabrese, Joseph R., Calkin, Cynthia V., Claasen, Ana, Coryell, William H., Craig, David, DeModena, Anna, Frye, Mark, Gage, Fred H., Gao, Keming, Garnham, Julie, Gershon, Elliot, Jakobsen, Petter, Leckband, Susan G., McCarthy, Michael J., McInnis, Melvin G., Maihofer, Adam X., Mertens, Jerome, Morken, Gunnar, Nievergelt, Caroline M., Nurnberger, John, Pham, Son, Schoeyen, Helle, Shekhtman, Tatyana, Shilling, Paul D., Szelinger, Szabolcs, Tarwater, Bruce, Yao, Jun, Zandi, Peter P., Kelsoe, John R.

获取全文 获取全文 获取全文

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder 由 Lessel, Davor, Schob, Claudia, Küry, Sébastien, Reinders, Margot R.F., Harel, Tamar, Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Denecke, Jonas, Edvardson, Shimon, Colin, Estelle, Stegmann, Alexander P.A., Gerkes, Erica H., Tessarech, Marine, Bonneau, Dominique, Barth, Magalie, Besnard, Thomas, Cogné, Benjamin, Revah-Politi, Anya, Strom, Tim M., Rosenfeld, Jill A., Yang, Yaping, Posey, Jennifer E., Immken, LaDonna, Oundjian, Nelly, Helbig, Katherine L., Meeks, Naomi, Zegar, Kelsey, Morton, Jenny, Schieving, Jolanda H., Claasen, Ana, Huentelman, Matthew, Narayanan, Vinodh, Ramsey, Keri, Brunner, Han G., Elpeleg, Orly, Mercier, Sandra, Bézieau, Stéphane, Kubisch, Christian, Kleefstra, Tjitske, Kindler, Stefan, Lupski, James R., Kreienkamp, Hans-Jürgen

获取全文 获取全文 获取全文

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder 由 Lessel, Davor, Schob, Claudia, Küry, Sébastien, Reijnders, Margot R.F., Harel, Tamar, Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Denecke, Jonas, Edvardson, Shimon, Colin, Estelle, Stegmann, Alexander P.A., Gerkes, Erica H., Tessarech, Marine, Bonneau, Dominique, Barth, Magalie, Besnard, Thomas, Cogné, Benjamin, Revah-Politi, Anya, Strom, Tim M., Rosenfeld, Jill A., Yang, Yaping, Posey, Jennifer E., Immken, LaDonna, Oundjian, Nelly, Helbig, Katherine L., Meeks, Naomi, Zegar, Kelsey, Morton, Jenny, the DDD study, Schieving, Jolanda H., Claasen, Ana, Huentelman, Matthew, Narayanan, Vinodh, Ramsey, Keri, Brunner, Han G., Elpeleg, Orly, Mercier, Sandra, Bézieau, Stéphane, Kubisch, Christian, Kleefstra, Tjitske, Kindler, Stefan, Lupski, James R., Kreienkamp, Hans-Jürgen

获取全文 获取全文 获取全文

Chronotype and cellular circadian rhythms predict the clinical response to lithium maintenance treatment in patients with bipolar disorder 由 McCarthy, Michael J., Wei, Heather, Nievergelt, Caroline M., Stautland, Andrea, Maihofer, Adam X., Welsh, David K., Shilling, Paul, Alda, Martin, Alliey-Rodriguez, Ney, Anand, Amit, Andreasson, Ole A., Balaraman, Yokesh, Berrettini, Wade H., Bertram, Holli, Brennand, Kristen J., Calabrese, Joseph R., Calkin, Cynthia V., Claasen, Ana, Conroy, Clara, Coryell, William H., Craig, David W., D’Arcangelo, Nicole, Demodena, Anna, Djurovic, Srdjan, Feeder, Scott, Fisher, Carrie, Frazier, Nicole, Frye, Mark A., Gage, Fred H., Gao, Keming, Garnham, Julie, Gershon, Elliot S., Glazer, Kara, Goes, Fernando, Goto, Toyomi, Harrington, Gloria, Jakobsen, Petter, Kamali, Masoud, Karberg, Elizabeth, Kelly, Marisa, Leckband, Susan G., Lohoff, Falk, McInnis, Melvin G., Mondimore, Francis, Morken, Gunnar, Nurnberger, John I., Obral, Sarah, Oedegaard, Ketil J., Ortiz, Abigail, Ritchey, Megan, Ryan, Kelly, Schinagle, Martha, Schoeyen, Helle, Schwebel, Candice, Shaw, Martha, Shekhtman, Tatyana, Slaney, Claire, Stapp, Emma, Szelinger, Szabolcs, Tarwater, Bruce, Zandi, Peter P., Kelsoe, John R.

获取全文 获取全文 获取全文