Search Results - "John, Abinayah"

The neurodevelopmental spectrum of synaptic vesicle cycling disorders by John, Abinayah, Ng‐Cordell, Elise, Hanna, Nancy, Brkic, Diandra, Baker, Kate

“…In this review, we describe and discuss neurodevelopmental phenotypes arising from rare, high penetrance genomic variants which directly influence synaptic…”
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Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder by Melland, Holly, Bumbak, Fabian, Kolesnik-Taylor, Anna, Ng-Cordell, Elise, John, Abinayah, Constantinou, Panayiotis, Joss, Shelagh, Larsen, Martin, Fagerberg, Christina, Laulund, Lone Walentin, Thies, Jenny, Emslie, Frances, Willemsen, Marjolein, Kleefstra, Tjitske, Pfundt, Rolf, Barrick, Rebekah, Chang, Richard, Loong, Lucy, Alfadhel, Majid, van der Smagt, Jasper, Nizon, Mathilde, Kurian, Manju A., Scott, Daniel J., Ziarek, Joshua J., Gordon, Sarah L., Baker, Kate

“…Synaptotagmin-1 (SYT1) is a critical mediator of neurotransmitter release in the central nervous system. Previously reported missense SYT1 variants in the C2B…”
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WHO simulations for youth engagement in global governance in a post-COVID world: Opportunities and challenges of moving conferences online by Li, Jiaqi, John, Abinayah, Tasos, Emmanouil, Koerling, Anna-Lucia, Rendina, Charlotte, Elshaer, Ahmed, Brunet, Constance, Magdy, Ahmed, Lyszkowski, Alexander, van Daalen, Kim

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