Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Naidu, SakkuBai R."'
Autor:
Johannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P.W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese, Van-Gils, Julien, Vogt, Julie, Damioli, Simona, Giordano, Lucio, Moortgat, Stephanie, Wirrell, Elaine, Hicks, Sarah, Kini, Usha, Noble, Nathan, Stewart, Helen, Asakar, Shailesh, Cohen, Julie S., Naidu, SakkuBai R., Collier, Ashley, Brilstra, Eva H., Li, Mindy H., Brew, Casey, Bigoni, Stefania, Ognibene, Davide, Ballardini, Elisa, Ruivenkamp, Claudia, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A., Grebe, Theresa, Pruna, Dario, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, Singh, Rahul Raman, Cantalupo, Gaetano, Willems, Marjolaine, Yoganathan, Sangeetha, Góes, Fernanda, Leventer, Richard J., Colavito, Davide, Olivotto, Sara, Scelsa, Barbara, Andrade, Andrea V., Ratke, Kelly, Tokarz, Farha, Khan, Atiya S., Ormieres, Clothilde, Benko, William, Keough, Karen, Keros, Sotirios, Hussain, Shanawaz, Franques, Ashlea, Varsalone, Felicia, Grønborg, Sabine, Mignot, Cyril, Heron, Delphine, Nava, Caroline, Isapof, Arnaud, Borlot, Felippe, Whitney, Robyn, Ronan, Anne, Foulds, Nicola, Somorai, Marta, Brandsema, John, Helbig, Katherine L., Helbig, Ingo, Ortiz-González, Xilma R., Dubbs, Holly, Vitobello, Antonio, Anderson, Mel, Spadafore, Dominic, Hunt, David, Møller, Rikke S., Rubboli, Guido
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Background and Objectives Purine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy,
Autor:
Crosson, Jane, Srivastava, Siddharth, Bibat, Genila M., Gupta, Siddharth, Kantipuly, Aditi, Smith-Hicks, Constance, Myers, Scott M., Sanyal, Abanti, Yenokyan, Gayane, Brenner, Joel, Naidu, Sakkubai R.
Rett syndrome (RTT) is caused by MECP2 mutations, resulting in various neurological symptoms. Prolonged corrected QT interval (QTc) is also reported and is a speculated cause of sudden death in RTT. The purpose of this study was to correlate QTc in R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0076e0e0b061688ad03ec6cb6dcbbb82
https://europepmc.org/articles/PMC5444992/
https://europepmc.org/articles/PMC5444992/
Akademický článek
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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Autor:
Crosson J; Division of Pediatric Cardiology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Bibat GM; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.; Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland., Gupta S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland., Kantipuly A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland., Smith-Hicks C; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.; Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland., Myers SM; Autism & Developmental Institute, Geisinger Health System, Lewisburg, Pennsylvania., Sanyal A; Johns Hopkins Biostatistics Center, Department of Biostatistics, Johns Hopkins University Bloomberg School of Public Health, Baltimore, Maryland., Yenokyan G; Johns Hopkins Biostatistics Center, Department of Biostatistics, Johns Hopkins University Bloomberg School of Public Health, Baltimore, Maryland., Brenner J; Division of Pediatric Cardiology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland., Naidu SR; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.; Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2017 Jun; Vol. 173 (6), pp. 1495-1501. Date of Electronic Publication: 2017 Apr 10.