Results 211 to 220 of about 2,296,312 (307)

Peer Review #3 of "Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants (v0.1)"

, 2019

openalex   +1 more source

In Silico Study of Rett Syndrome Treatment-Related Genes, MECP2, CDKL5, and FOXG1, by Evolutionary Classification and Disordered Region Assessment [PDF]

, 2019
Muhamad Fahmi, Gen Yasui, Kaito Seki, Syouichi Katayama, Takako Kaneko‐Kawano, T. INAZU, Yukihiko Kubota, Masahiro Ito   +7 more
openalex   +1 more source

Optimized clonal isolation and immortalization of Rett syndrome patient fibroblasts for in vitro modeling of MECP2 mutations. [PDF]

Sci Rep
Sarne V, Huber A, Beribisky AV, Hengstschläger M, Laccone F, Steinkellner H.   +5 more
europepmc   +1 more source

EMG findings in the course of vidarabine neuropathy [PDF]

, 1988
Berlit, Peter, Brosi, K., Krause, Klaus-Henning, Scheglmann, K.   +3 more
core  

MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives

, 2015
Alan K. Percy, Vishnu Anand Cuddapah, Sinifunanya E. Nwaobi, Michelle L. Olsen   +3 more
openalex   +2 more sources

P203: Medical biases and misconceptions impact Rett syndrome diagnoses in males [PDF]

Talia Thompson, Dennis Gurfinkel, Lori Silveira, Cary Fu, Amitha Ananth, Kate Ferdinandsen, Jane B. Lane, Eric D. Marsh, Jeffrey L. Neul, Alan K. Percy, Tim A. Benke   +10 more
openalex   +1 more source

Enhancing cognitive-motor recovery in Rett syndrome: effects of integrated intervention on neuropsychological and motor outcome. [PDF]

Front Psychol
Fabio RA, Semino M, Perina M.
europepmc   +1 more source

Clinical differences in monozygotic twins with Rett syndrome: case report and systematic review. [PDF]

Orphanet J Rare Dis
Boeri S, Piai M, Russo S, Alari V, Cogliati F, Simonetta D, Benke TA, Nobili L, Prato G.   +8 more
europepmc   +1 more source

Three different profiles: Early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development

, 2013
Peter B. Marschik, Katrin D. Bartl-Pokorny, Helen Tager‐Flusberg, Walter E. Kaufmann, Florian B. Pokorny, Tobias Großmann, Christian Windpassinger, Erwin Petek, Christa Einspieler   +8 more
openalex   +1 more source

Middle-Aged Women With Rett Syndrome: Longitudinal Profile From the British Isles Rett Syndrome Survey and Suggestions for Care. [PDF]

J Appl Res Intellect Disabil
Hryniewiecka-Jaworska A, Sloper E, Archer H, Clarke AJ.   +3 more
europepmc   +1 more source