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pro vyhledávání: '"Kim M Thalwitzer"'
Autor:
Katie R. Sullivan, Sarah M. Ruggiero, Julie Xian, Kim M. Thalwitzer, Rahma Ali, Sydni Stewart, Mahgenn Cosico, Jackie Steinberg, James Goss, Anna C. Pfalzer, Kyle J. Horning, Nicole Weitzel, Sydney Corey, Laura Conway, Charlene Son Rigby, Terry Jo Bichell, Ingo Helbig
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 320-333 (2023)
Abstract Objective STXBP1‐related disorders are rare genetic epilepsies and neurodevelopmental disorders, but the impact of symptoms across clinical domains is poorly understood. Disease concept models are formal frameworks to assess the lived expe
Externí odkaz:
https://doaj.org/article/8198dab77bef450281e40e20c2430f6a
Autor:
Katie R Sullivan, Sarah M Ruggiero, Julie Xian, Kim M Thalwitzer, Sydni Stewart, Mahgenn Cosico, Jackie Steinberg, James Goss, Anna Pfalzer, Kyle J Horning, Nicole Weitzel, Sydney Corey, Laura Conway, Charlene Son Rigby, Terry Jo Bichell, Ingo Helbig
ObjectiveSTXBP1-related disorders are common genetic epilepsies and neurodevelopmental disorders, but the impact of symptoms across clinical domains is poorly understood. Disease concept models are formal frameworks to assess the lived experience of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1cd2ad2c972f74fffe9b2f16ab8b745c
https://doi.org/10.1101/2022.08.05.22278197
https://doi.org/10.1101/2022.08.05.22278197