Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Kristy Zeng"'
Autor:
Issam Ben-Sahra, Mona Grimmel, Marcello Scala, Nina Ekhilevich, Valeria Capra, Hannah C Happ, Gemma L. Carvill, John Millichap, Lynne M. Bird, Anna Chassevent, Meredith Hiller, Eva M. C. Schwaibold, Tova Hershkovitz, Miriam C. Aziz, Najma Mohamed, Constance Smith-Hicks, Irena Bellinski, Elizabeth E. Gerard, Andrea Accogli, Kristy Zeng, Colleen Gleason, Jonathan Gunti, Lisa Kinsley, Pasquale Striano, Emily Bryant, Karin Weiss, Jeffrey D. Calhoun, Divakar S. Mithal, Annalaura Torella
Biallelic pathogenic variants in SZT2 result in a neurodevelopmental disorder with shared features, including early-onset epilepsy, developmental delay, macrocephaly, and corpus callosum abnormalities. SZT2 is as a critical scaffolding protein in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ce051f8837d3f7d7f0eb6e3f966924
https://hdl.handle.net/11567/1119258
https://hdl.handle.net/11567/1119258
Publikováno v:
Brain: A Journal of Neurology; Aug2023, Vol. 146 Issue 8, pe61-e61, 1p
Autor:
Calhoun, Jeffrey D, Aziz, Miriam C, Happ, Hannah C, Gunti, Jonathan, Gleason, Colleen, Mohamed, Najma, Zeng, Kristy, Hiller, Meredith, Bryant, Emily, Mithal, Divakar S, Bellinski, Irena, Kinsley, Lisa, Grimmel, Mona, Schwaibold, Eva M C, Smith-Hicks, Constance, Chassevent, Anna, Scala, Marcello, Accogli, Andrea, Torella, Annalaura, Striano, Pasquale
Publikováno v:
Brain: A Journal of Neurology; Jun2022, Vol. 145 Issue 6, p1939-1948, 10p