Výsledky vyhledávání - Baskin, Berivan

Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation Autor Lines, Matthew A., Rupar, C. Anthony, Rip, Jack W., Baskin, Berivan, Ray, Peter N., Hegele, Robert A., Grynspan, David, Michaud, Jean, Geraghty, Michael T.

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PreBIND and Textomy – mining the biomedical literature for protein-protein interactions using a support vector machine Autor Donaldson, Ian, Martin, Joel, de Bruijn, Berry, Wolting, Cheryl, Lay, Vicki, Tuekam, Brigitte, Zhang, Shudong, Baskin, Berivan, Bader, Gary D, Michalickova, Katerina, Pawson, Tony, Hogue, Christopher WV

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Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms Autor Baskin, Berivan, Stavropoulos, Dimitri J, Rebeiro, Paige A, Orr, Jennifer, Li, Martin, Steele, Leslie, Marshall, Christian R, Lemire, Edmond G, Boycott, Kym M, Gibson, William, Ray, Peter N

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De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy Autor Djordjevic, Djurdja, Pinard, Maxime, Gauthier, Marie-Soleil, Smith-Hicks, Constance, Hoffman, Trevor L., Wolf, Nicole I., Oegema, Renske, van Binsbergen, Ellen, Baskin, Berivan, Bernard, Geneviève, Fribourg, Sébastien, Coulombe, Benoit, Yoon, Grace

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De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy Autor Djordjevic, Djurdja, Pinard, Maxime, Gauthier, Marie-Soleil, Smith-Hicks, Constance, Hoffman, Trevor L., Wolf, Nicole I., Oegema, Renske, van Binsbergen, Ellen, Baskin, Berivan, Bernard, Geneviève, Fribourg, Sébastien, Coulombe, Benoit, Yoon, Grace

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A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion Syndromes Autor Shlien, Adam, Baskin, Berivan, Achatz, Maria Isabel W., Stavropoulos, Dimitrios J., Nichols, Kim E., Hudgins, Louanne, Morel, Chantal F., Adam, Margaret P., Zhukova, Nataliya, Rotin, Lianne, Novokmet, Ana, Druker, Harriet, Shago, Mary, Ray, Peter N., Hainaut, Pierre, Malkin, David

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Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood Autor Edvardson, Simon, Nicolae, Claudia M., Agrawal, Pankaj B., Mignot, Cyril, Payne, Katelyn, Prasad, Asuri Narayan, Prasad, Chitra, Sadler, Laurie, Nava, Caroline, Mullen, Thomas E., Begtrup, Amber, Baskin, Berivan, Powis, Zöe, Shaag, Avraham, Keren, Boris, Moldovan, George-Lucian, Elpeleg, Orly

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Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability Autor Pilarowski, Genay O., Vernon, Hilary J., Applegate, Carolyn D., Boukas, Leandros, Cho, Megan T., Gurnett, Christina A., Benke, Paul J., Beaver, Erin, Heeley, Jennifer M., Medne, Livija, Krantz, Ian D., Azage, Meron, Niyazov, Dmitriy, Henderson, Lindsay B., Wentzensen, Ingrid M., Baskin, Berivan, Guillen Sacoto, Maria J., Bowman, Gregory D., Bjornsson, Hans Tomas

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Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures Autor Stern, Diana, Cho, Megan T., Chikarmane, Rashmi, Willaert, Rebecca, Retterer, Kyle, Kendall, Fran, Deardorff, Matthew, Hopkins, Sarah, Bedoukian, Emma, Slavotinek, Anne, Vergano, Samantha Schrier, Spangler, Brooke, McDonald, Marie, McConkie-Rosell, Allyn, Burton, Barbara K., Kim, Katherine H., Oundjian, Nelly, Kronn, David, Chandy, Nandini, Baskin, Berivan, Guillen Sacoto, Maria J., Wentzensen, Ingrid M., McLaughlin, Heather M., McKnight, Dianalee, Chung, Wendy K.

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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation Autor Yan, Kezhi, Rousseau, Justine, Littlejohn, Rebecca Okashah, Kiss, Courtney, Lehman, Anna, Rosenfeld, Jill A., Stumpel, Constance T.R., Stegmann, Alexander P.A., Robak, Laurie, Scaglia, Fernando, Nguyen, Thi Tuyet Mai, Fu, He, Ajeawung, Norbert F., Camurri, Maria Vittoria, Li, Lin, Gardham, Alice, Panis, Bianca, Almannai, Mohammed, Sacoto, Maria J. Guillen, Baskin, Berivan, Ruivenkamp, Claudia, Xia, Fan, Bi, Weimin, Cho, Megan T., Potjer, Thomas P., Santen, Gijs W.E., Parker, Michael J., Canham, Natalie, McKinnon, Margaret, Potocki, Lorraine, MacKenzie, Jennifer J., Roeder, Elizabeth R., Campeau, Philippe M., Yang, Xiang-Jiao

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A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures Autor Gennarino, Vincenzo A., Palmer, Elizabeth E., McDonell, Laura M., Wang, Li, Adamski, Carolyn J., Koire, Amanda, See, Lauren, Chen, Chun-An, Schaaf, Christian P., Rosenfeld, Jill A., Panzer, Jessica A., Moog, Ute, Hao, Shuang, Bye, Ann, Kirk, Edwin P., Stankiewicz, Pawel, Breman, Amy M., McBride, Arran, Kandula, Tejaswi, Dubbs, Holly A., Macintosh, Rebecca, Cardamone, Michael, Zhu, Ying, Ying, Kevin, Dias, Kerith-Rae, Cho, Megan T., Henderson, Lindsay B., Baskin, Berivan, Morris, Paula, Tao, Jiang, Cowley, Mark J., Dinger, Marcel E., Roscioli, Tony, Caluseriu, Oana, Suchowersky, Oksana, Sachdev, Rani K., Lichtarge, Olivier, Tang, Jianrong, Boycott, Kym M., Holder, J. Lloyd, Zoghbi, Huda Y.

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Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes Autor Martinelli, Simone, Krumbach, Oliver H.F., Pantaleoni, Francesca, Coppola, Simona, Amin, Ehsan, Pannone, Luca, Nouri, Kazem, Farina, Luciapia, Dvorsky, Radovan, Lepri, Francesca, Buchholzer, Marcel, Konopatzki, Raphael, Walsh, Laurence, Payne, Katelyn, Pierpont, Mary Ella, Vergano, Samantha Schrier, Langley, Katherine G., Larsen, Douglas, Farwell, Kelly D., Tang, Sha, Mroske, Cameron, Gallotta, Ivan, Di Schiavi, Elia, della Monica, Matteo, Lugli, Licia, Rossi, Cesare, Seri, Marco, Cocchi, Guido, Henderson, Lindsay, Baskin, Berivan, Alders, Mariëlle, Mendoza-Londono, Roberto, Dupuis, Lucie, Nickerson, Deborah A., Chong, Jessica X., Meeks, Naomi, Brown, Kathleen, Causey, Tahnee, Cho, Megan T., Demuth, Stephanie, Digilio, Maria Cristina, Gelb, Bruce D., Bamshad, Michael J., Zenker, Martin, Ahmadian, Mohammad Reza, Hennekam, Raoul C., Tartaglia, Marco, Mirzaa, Ghayda M.

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WNT activation by lithium abrogates TP53 mutation associated radiation resistance in medulloblastoma Autor Zhukova, Nataliya, Ramaswamy, Vijay, Remke, Marc, Martin, Dianna C, Castelo-Branco, Pedro, Zhang, Cindy H, Fraser, Michael, Tse, Ken, Poon, Raymond, Shih, David JH, Baskin, Berivan, Ray, Peter N, Bouffet, Eric, Dirks, Peter, von Bueren, Andre O, Pfaff, Elke, Korshunov, Andrey, Jones, David TW, Northcott, Paul A, Kool, Marcel, Pugh, Trevor J, Pomeroy, Scott L, Cho, Yoon-Jae, Pietsch, Torsten, Gessi, Marco, Rutkowski, Stefan, Bognár, Laszlo, Cho, Byung-Kyu, Eberhart, Charles G, Conter, Cecile Faure, Fouladi, Maryam, French, Pim J, Grajkowska, Wieslawa A, Gupta, Nalin, Hauser, Peter, Jabado, Nada, Vasiljevic, Alexandre, Jung, Shin, Kim, Seung-Ki, Klekner, Almos, Kumabe, Toshihiro, Lach, Boleslaw, Leonard, Jeffrey R, Liau, Linda M, Massimi, Luca, Pollack, Ian F, Ra, Young Shin, Rubin, Joshua B, Van Meir, Erwin G, Wang, Kyu-Chang, Weiss, William A, Zitterbart, Karel, Bristow, Robert G, Alman, Benjamin, Hawkins, Cynthia E, Malkin, David, Clifford, Steven C, Pfister, Stefan M, Taylor, Michael D, Tabori, Uri

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Subgroup-Specific Prognostic Implications of TP53 Mutation in Medulloblastoma Autor Zhukova, Nataliya, Ramaswamy, Vijay, Remke, Marc, Pfaff, Elke, Shih, David J.H., Martin, Dianna C., Castelo-Branco, Pedro, Baskin, Berivan, Ray, Peter N., Bouffet, Eric, von Bueren, André O., Jones, David T.W., Northcott, Paul A., Kool, Marcel, Sturm, Dominik, Pugh, Trevor J., Pomeroy, Scott L., Cho, Yoon-Jae, Pietsch, Torsten, Gessi, Marco, Rutkowski, Stefan, Bognar, Laszlo, Klekner, Almos, Cho, Byung-Kyu, Kim, Seung-Ki, Wang, Kyu-Chang, Eberhart, Charles G., Fevre-Montange, Michelle, Fouladi, Maryam, French, Pim J., Kros, Max, Grajkowska, Wieslawa A., Gupta, Nalin, Weiss, William A., Hauser, Peter, Jabado, Nada, Jouvet, Anne, Jung, Shin, Kumabe, Toshihiro, Lach, Boleslaw, Leonard, Jeffrey R., Rubin, Joshua B., Liau, Linda M., Massimi, Luca, Pollack, Ian F., Shin Ra, Young, Van Meir, Erwin G., Zitterbart, Karel, Schüller, Ulrich, Hill, Rebecca M., Lindsey, Janet C., Schwalbe, Ed C., Bailey, Simon, Ellison, David W., Hawkins, Cynthia, Malkin, David, Clifford, Steven C., Korshunov, Andrey, Pfister, Stefan, Taylor, Michael D., Tabori, Uri

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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome Autor Kim, Jung-Hyun, Shinde, Deepali N., Reijnders, Margot R.F., Hauser, Natalie S., Belmonte, Rebecca L., Wilson, Gregory R., Bosch, Daniëlle G.M., Bubulya, Paula A., Shashi, Vandana, Petrovski, Slavé, Stone, Joshua K., Park, Eun Young, Veltman, Joris A., Sinnema, Margje, Stumpel, Connie T.R.M., Draaisma, Jos M., Nicolai, Joost, Yntema, Helger G., Lindstrom, Kristin, de Vries, Bert B.A., Jewett, Tamison, Santoro, Stephanie L., Vogt, Julie, Bachman, Kristine K., Seeley, Andrea H., Krokosky, Alyson, Turner, Clesson, Rohena, Luis, Hempel, Maja, Kortüm, Fanny, Lessel, Davor, Neu, Axel, Strom, Tim M., Wieczorek, Dagmar, Bramswig, Nuria, Laccone, Franco A., Behunova, Jana, Rehder, Helga, Gordon, Christopher T., Rio, Marlène, Romana, Serge, Tang, Sha, El-Khechen, Dima, Cho, Megan T., McWalter, Kirsty, Douglas, Ganka, Baskin, Berivan, Begtrup, Amber, Funari, Tara, Schoch, Kelly, Stegmann, Alexander P.A., Stevens, Servi J.C., Zhang, Dong-Er, Traver, David, Yao, Xu, MacArthur, Daniel G., Brunner, Han G., Mancini, Grazia M., Myers, Richard M., Owen, Laurie B., Lim, Ssang-Taek, Stachura, David L., Vissers, Lisenka E.L.M., Ahn, Eun-Young Erin

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