检索结果 - Gardner, Alison
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Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism 由 van Eyk, Clare L., Corbett, Mark A., Gardner, Alison, van Bon, Bregje W., Broadbent, Jessica L., Harper, Kelly, MacLennan, Alastair H., Gecz, Jozef
出版 2018Text -
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Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females 由 Jackson, Matilda R, Loring, Karagh E, Homan, Claire C, Thai, Monica HN, Määttänen, Laura, Arvio, Maria, Jarvela, Irma, Shaw, Marie, Gardner, Alison, Gecz, Jozef, Shoubridge, Cheryl
出版 2019Text -
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The unequal impact of Covid‐19 on the lives and rights of the children of modern slavery survivors, children in exploitation and children at risk of entering exploitation 由 Jiménez, Erika, Brotherton, Vicky, Gardner, Alison, Wright, Nicola, Browne, Hannah, Esiovwa, Nancy, Dang, Minh, Wyman, Emily, Bravo‐Balsa, Liana, Lucas, Benjamin, Gul, Mohsen, Such, Elizabeth, Trodd, Zoe
出版 2022Text -
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Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations 由 Field, Michael, Scheffer, Ingrid E, Gill, Deepak, Wilson, Meredith, Christie, Louise, Shaw, Marie, Gardner, Alison, Glubb, Georgie, Hobson, Lynne, Corbett, Mark, Friend, Kathryn, Willis-Owen, Saffron, Gecz, Jozef
出版 2012Text -
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A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24 由 Corbett, Mark A., Bahlo, Melanie, Jolly, Lachlan, Afawi, Zaid, Gardner, Alison E., Oliver, Karen L., Tan, Stanley, Coffey, Amy, Mulley, John C., Dibbens, Leanne M., Simri, Walid, Shalata, Adel, Kivity, Sara, Jackson, Graeme D., Berkovic, Samuel F., Gecz, Jozef
出版 2010Text