Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Stacey R. Cohen"'
Autor:
Maimuna S. Paul, Sydney L. Michener, Hongling Pan, Jessica M. Pfliger, Jill A. Rosenfeld, Vanesa C. Lerma, Alyssa Tran, Megan A. Longley, Richard A. Lewis, Monika Weisz-Hubshman, Mir Reza Bekheirnia, Nasim Bekheirnia, Lauren Massingham, Michael Zech, Matias Wagner, Hartmut Engels, Kirsten Cremer, Elisabeth Mangold, Sophia Peters, Jessica Trautmann, Jessica L. Mester, Maria J. Guillen Sacoto, Richard Person, Pamela P. McDonnell, Stacey R. Cohen, Laina Lusk, Ana S.A. Cohen, Jean-Baptiste Le Pichon, Tomi Pastinen, Dihong Zhou, Kendra Engleman, Caroline Racine, Laurence Faivre, Sébastien Moutton, Anne-Sophie Denommé- Pichon, Sarah Schuhmann, Georgia Vasileiou, Sophie Russ-Hall, Ingrid E. Scheffer, Gemma L. Carvill, Heather Mefford, Undiagnosed Diseases Network, Carlos A. Bacino, Brendan H. Lee, Hsiao-Tuan Chao
Publikováno v:
medRxiv
PPFIA3encodes the Protein-Tyrosine Phosphatase, Receptor-Type, F Polypeptide-Interacting Protein Alpha-3 (PPFIA3), which is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family involved in synaptic vesicle transport an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9b9d27faee82a3f944077cb8451c280
https://europepmc.org/articles/PMC10081396/
https://europepmc.org/articles/PMC10081396/
Autor:
Peter D. Galer, Shridhar Parthasarathy, Julie Xian, Jillian L. McKee, Sarah M. Ruggiero, Shiva Ganesan, David Lewis-Smith, Michael C. Kaufman, Stacey R. Cohen, Scott Haag, Alexander K. Gonzalez, Olivia Wilmarth, Colin A. Ellis, Brian Litt, Ingo Helbig
An early genetic diagnosis can guide the time-sensitive treatment and care of individuals with genetic epilepsies. However, identification of a genetic cause often occurs long after onset of these disorders. Here, we aimed to identify early clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::36e840f1101ac38263f61927f8b338f2
https://doi.org/10.1101/2022.12.08.22283226
https://doi.org/10.1101/2022.12.08.22283226
Autor:
Stacey R. Cohen, Ingo Helbig, Michael C. Kaufman, Leah Schust Myers, Laura Conway, Katherine L. Helbig
Publikováno v:
Developmental medicine and child neurologyREFERENCES. 64(8)
To summarize quality of life (QoL) and its determinants, including disease severity, in individuals with developmental and epileptic encephalopathies (DEEs) through a tailored questionnaire.A questionnaire containing 89 items addressing demographic c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84f03b7adc5dcf9e4d68b40a44758ce4
https://pubmed.ncbi.nlm.nih.gov/35315520
https://pubmed.ncbi.nlm.nih.gov/35315520
