Kết quả tìm kiếm - Karachunski, Peter

Nusinersen injections in adults and children with spinal muscular atrophy: a single-center experience Bằng Özütemiz, Can, Karachunski, Peter, Nascene, David R.

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Anti-MDA5 juvenile idiopathic inflammatory myopathy with second-degree heart block but no skin or lung involvement: a case report Bằng Ryan, Meghan E., Cortez, Daniel, Dietz, Kelly R., Karachunski, Peter, Binstadt, Bryce A.

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Feasibility and tolerability of whole‐body, low‐intensity vibration and its effects on muscle function and bone in patients with dystrophinopathies: a pilot study Bằng Petryk, Anna, Polgreen, Lynda E., Grames, Molly, Lowe, Dawn A., Hodges, James S., Karachunski, Peter

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Xanthine oxidase is hyper-active in Duchenne muscular dystrophy Bằng Lindsay, Angus, McCourt, Preston M., Karachunski, Peter, Lowe, Dawn A., Ervasti, James M.

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Case Report: The Specter of Untreated Congenital Hypothyroidism in Immigrant Families Bằng Hamdoun, Elwaseila, Karachunski, Peter, Nathan, Brandon, Fischer, Melissa, Torkelson, Jane L., Drilling, Amy, Petryk, Anna

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Acute Transverse Myelitis Caused by Echovirus 11 in a Pediatric Patient: Case Report and Review of the Current Literature Bằng Moline, Heidi L., Karachunski, Peter I., Strain, Anna, Griffith, Jayne, Kenyon, Cynthia, Schleiss, Mark R.

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One Year Outcome of Boys with Duchenne Muscular Dystrophy Using the Bayley-III Scales of Infant and Toddler Development Bằng Connolly, Anne M., Florence, Julaine M., Cradock, Mary M., Eagle, Michelle, Flanigan, Kevin M., McDonald, Craig M., Karachunski, Peter I., Darras, Basil T., Bushby, Kate, Malkus, Elizabeth C., Golumbek, Paul T., Zaidman, Craig M., Miller, J Philip, Mendell, Jerry R.

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A multinational study on motor function in early-onset FSHD Bằng Mah, Jean K., Feng, Jia, Jacobs, Marni B., Duong, Tina, Carroll, Kate, de Valle, Katy, Carty, Cara L., Morgenroth, Lauren P., Guglieri, Michela, Ryan, Monique M., Clemens, Paula R., Thangarajh, Mathula, Webster, Richard, Smith, Edward, Connolly, Anne M., McDonald, Craig M., Karachunski, Peter, Tulinius, Mar, Harper, Amy, Cnaan, Avital, Chen, Yi-Wen

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Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral Dystrophy Bằng Heier, Christopher R., Zhang, Aiping, Nguyen, Nhu Y, Tully, Christopher B., Panigrahi, Aswini, Gordish-Dressman, Heather, Pandey, Sachchida Nand, Guglieri, Michela, Ryan, Monique M., Clemens, Paula R., Thangarajh, Mathula, Webster, Richard, Smith, Edward C., Connolly, Anne M., McDonald, Craig M., Karachunski, Peter, Tulinius, Mar, Harper, Amy, Mah, Jean K., Fiorillo, Alyson A., Chen, Yi-Wen

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Outcome Reliability in Non Ambulatory Boys/Men with Duchenne Muscular Dystrophy Bằng Connolly, Anne M., Malkus, Elizabeth C., Mendell, Jerry R., Flanigan, Kevin M., Miller, J Philip, Schierbecker, Jeanine R., Siener, Catherine A., Golumbek, Paul T., Zaidman, Craig M., McDonald, Craig M., Johnson, Linda, Nicorici, Alina, Karachunski, Peter I., Day, John W., Kelecic, Jason M., Lowes, Linda P, Alfano, Lindsay N., Darras, Basil T., Kang, Peter B., Quigley, Janet, Pasternak, Amy E., Florence, Julaine M.

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De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental de... Bằng Slavotinek, Anne, Risolino, Maurizio, Losa, Marta, Cho, Megan T, Monaghan, Kristin G, Schneidman-Duhovny, Dina, Parisotto, Sarah, Herkert, Johanna C, Stegmann, Alexander P A, Miller, Kathryn, Shur, Natasha, Chui, Jacqueline, Muller, Eric, DeBrosse, Suzanne, Szot, Justin O, Chapman, Gavin, Pachter, Nicholas S, Winlaw, David S, Mendelsohn, Bryce A, Dalton, Joline, Sarafoglou, Kyriakie, Karachunski, Peter I, Lewis, Jane M, Pedro, Helio, Dunwoodie, Sally L, Selleri, Licia, Shieh, Joseph

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TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants Bằng Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.

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Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants Bằng Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.

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Motor and Cognitive Assessment of Infants and Young Boys with Duchenne Muscular Dystrophy; Results from the Muscular Dystrophy Association DMD Clinical Research Network Bằng Connolly, Anne M., Florence, Julaine M., Cradock, Mary M., Malkus, Elizabeth C., Schierbecker, Jeanine R., Siener, Catherine A., Wulf, Charlie O., Anand, Pallavi, Golumbek, Paul T., Zaidman, Craig M, Miller, J Philip, Lowes, Linda P, Alfano, Lindsay N., Viollet-Callendret, Laurence, Flanigan, Kevin M., Mendell, Jerry R., McDonald, Craig M., Goude, Erica, Johnson, Linda, Nicorici, Alina, Karachunski, Peter I., Day, John W., Dalton, Joline C., Farber, Janey M., Buser, Karen K., Darras, Basil T., Kang, Peter B., Riley, Susan O., Shriber, Elizabeth, Parad, Rebecca, Bushby, Kate, Eagle, Michelle

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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures Bằng Petrovski, Slavé, Küry, Sébastien, Myers, Candace T., Anyane-Yeboa, Kwame, Cogné, Benjamin, Bialer, Martin, Xia, Fan, Hemati, Parisa, Riviello, James, Mehaffey, Michele, Besnard, Thomas, Becraft, Emily, Wadley, Alexandrea, Politi, Anya Revah, Colombo, Sophie, Zhu, Xiaolin, Ren, Zhong, Andrews, Ian, Dudding-Byth, Tracy, Schneider, Amy L., Wallace, Geoffrey, Rosen, Aaron B.I., Schelley, Susan, Enns, Gregory M., Corre, Pierre, Dalton, Joline, Mercier, Sandra, Latypova, Xénia, Schmitt, Sébastien, Guzman, Edwin, Moore, Christine, Bier, Louise, Heinzen, Erin L., Karachunski, Peter, Shur, Natasha, Grebe, Theresa, Basinger, Alice, Nguyen, Joanne M., Bézieau, Stéphane, Wierenga, Klaas, Bernstein, Jonathan A., Scheffer, Ingrid E., Rosenfeld, Jill A., Mefford, Heather C., Isidor, Bertrand, Goldstein, David B.

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