Zobrazeno 1 - 10
of 914
pro vyhledávání: '"A. Beisang"'
Autor:
Jeffrey L. Neul, Tim A. Benke, Eric D. Marsh, Jane B. Lane, David N. Lieberman, Steven A. Skinner, Daniel G. Glaze, Bernhard Suter, Peter T. Heydemann, Arthur A. Beisang, Shannon M. Standridge, Robin C. C. Ryther, Richard H. Haas, Lloyd J. Edwards, Amitha Ananth, Alan K. Percy
Publikováno v:
Annals of the Child Neurology Society, Vol 1, Iss 3, Pp 228-238 (2023)
Abstract Objective We aimed to determine the longitudinal distribution of hand function skills in individuals with classic Rett syndrome (RTT), an X‐linked dominant neurodevelopmental disorder, and correlate with MECP2 variants. Method We conducted
Externí odkaz:
https://doaj.org/article/a0d6b9c130ce49d09ab69e1545e711bb
Akademický článek
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Autor:
Caroline B. Buchanan, Jennifer L. Stallworth, Aubin E. Joy, Rebekah E. Dixon, Alexandra E. Scott, Arthur A. Beisang, Timothy A. Benke, Daniel G. Glaze, Richard H. Haas, Peter T. Heydemann, Mary D. Jones, Jane B. Lane, David N. Lieberman, Eric D. Marsh, Jeffrey L. Neul, Sarika U. Peters, Robin C. Ryther, Steve A. Skinner, Shannon M. Standridge, Walter E. Kaufmann, Alan K. Percy
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-11 (2022)
Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene. Internalizing behaviors appear to be common, but standard methods of diagnosing anxiety are not readily ap
Externí odkaz:
https://doaj.org/article/8aae0854010443cb93ccd08bb6de4fed
Autor:
Kathleen Bogart, Amanda Hemmesch, Erica Barnes, Thomas Blissenbach, Arthur Beisang, Patti Engel, The Chloe Barnes Advisory Council on Rare Diseases
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-18 (2022)
Abstract Background Research in a variety of countries indicates that healthcare access and health-related quality of life are challenged among people with a variety of rare diseases (RDs). However, there has been little systematic research on the ex
Externí odkaz:
https://doaj.org/article/49e6da58b50e4ee1bc541d0a6a94c03e
Autor:
Motil, Kathleen J., Geerts, Suzanne, Annese, Fran, Neul, Jeffrey L., Benke, Tim, Marsh, Eric, Lieberman, David, Skinner, Steven A., Glaze, Daniel G., Heydemann, Peter, Beisang, Arthur, Standridge, Shannon, Ryther, Robin, Lane, Jane B., Edwards, Lloyd, Percy, Alan K.
Publikováno v:
In The Journal of Pediatrics May 2022 244:169-177
Autor:
Evdokia Angelidis, Arthur Beisang, Timothy Benke, Daniel Glaze, Richard Haas, Peter Heydemann, Mary Jones, Jane Lane, David Lieberman, Eric Marsh, Jeffrey Neul, Sarika Peters, Robin Ryther, Steven Skinner, Shannon Standridge, Walter Kaufmann, Alan Percy, Caroline Buchanan
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100134- (2023)
Externí odkaz:
https://doaj.org/article/0b1ad74a6ae24261aa773689f619b32c
Akademický článek
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Autor:
Moheet, Amir, Beisang, Daniel, Zhang, Lin, Sagel, Scott D., VanDalfsen, Jill M., Heltshe, Sonya L., Frederick, Carla, Mann, Michelle, Antos, Nicholas, Billings, Joanne, Rowe, Steven M., Moran, Antoinette
Publikováno v:
In Journal of Cystic Fibrosis March 2021 20(2):333-338
Autor:
Xiaolan Fang, Kameryn M. Butler, Fatima Abidi, Jennifer Gass, Arthur Beisang, Timothy Feyma, Robin C. Ryther, Shannon Standridge, Peter Heydemann, Mary Jones, Richard Haas, David N Lieberman, Eric D. Marsh, Tim A. Benke, Steve Skinner, Jeffrey L. Neul, Alan K. Percy, Michael J. Friez, Raymond C. Caylor
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
Abstract Background Rett syndrome (RTT) is a rare neurodevelopmental disorder associated with pathogenic MECP2 variants. Because the MECP2 gene is subject to X‐chromosome inactivation (XCI), factors including MECP2 genotypic variation, tissue diffe
Externí odkaz:
https://doaj.org/article/996c3d61b19843d580a58e638b94cc77
Autor:
Byiers, Breanne J., Merbler, Alyssa M., Barney, Chantel C., Frenn, Kristin A., Panoskaltsis-Mortari, Angela, Ehrhardt, Michael J., Feyma, Timothy J., Beisang, Arthur A., Symons, Frank
Publikováno v:
In Brain, Behavior, & Immunity - Health January 2020 1