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Autor:
Vontell, Regina Theresa, Supramaniam, Veena, Davidson, Alice, Thornton, Claire, Marnerides, Andreas, Holder-Espinasse, Muriel, Lillis, Suzanne, Yau, Michael, Jansson, Mattias, Hagberg, Henrik, Rutherford, Mary Ann
Publikováno v:
Frontiers in Physiology
Vontell, R T, Supramaniam, V, Davidson, A, Thornton, C, Marnerides, A, Holder-Espinasse, M, Lillis, S, Yau, M, Jansson, M, Hagberg, H & Rutherford, M A 2019, ' Post-mortem Characterisation of a Case with an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia ', Frontiers in Physiology, vol. 10, no. MAY, 623 . https://doi.org/10.3389/fphys.2019.00623
Vontell, R T, Supramaniam, V, Davidson, A, Thornton, C, Marnerides, A, Holder-Espinasse, M, Lillis, S, Yau, M, Jansson, M, Hagberg, H & Rutherford, M A 2019, ' Post-mortem Characterisation of a Case with an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia ', Frontiers in Physiology, vol. 10, no. MAY, 623 . https://doi.org/10.3389/fphys.2019.00623
Cytoplasmic Actin Gamma 1 (ACTG1) gene variant are autosomal dominant and can cause CNS anomalies (Baraitser Winter Malformation Syndrome; BWMS). ACTG1 anomalies in offspring include agenesis of the corpus callosum (ACC) and neuronal heterotopia whic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e7dfb6d0557914e54b5b9a3de22cb258
Autor:
Lockwood estrin , Georgia, Kyriakopoulou, Vanessa, Makropoulos, Antonis, Ball, Gareth David, Kuhendran, Lakshmi, Chew, Andrew, Hagnerg, Bibbi, Martinez-Biarge, Miriam, Allsop, Joanna, Fox, Matthew, Counsell, Serena Jane, Rutherford, Mary Ann
Publikováno v:
NeuroImage: Clinical, Vol 11, Iss C, Pp 139-148 (2016)
Lockwood estrin, G, Kyriakopoulou, V, Makropoulos, A, Ball, G D, Kuhendran, L, Chew, A, Hagnerg, B, Martinez-Biarge, M, Allsop, J, Fox, M, Counsell, S J & Rutherford, M A 2016, ' Altered white matter and cortical structure in neonates with antenatally diagnosed isolated ventriculomegaly ', NeuroImage. Clinical, vol. 11, pp. 139–148 . https://doi.org/10.1016/j.nicl.2016.01.012
Lockwood estrin, G, Kyriakopoulou, V, Makropoulos, A, Ball, G D, Kuhendran, L, Chew, A, Hagnerg, B, Martinez-Biarge, M, Allsop, J, Fox, M, Counsell, S J & Rutherford, M A 2016, ' Altered white matter and cortical structure in neonates with antenatally diagnosed isolated ventriculomegaly ', NeuroImage. Clinical, vol. 11, pp. 139–148 . https://doi.org/10.1016/j.nicl.2016.01.012
Ventriculomegaly (VM) is the most common central nervous system abnormality diagnosed antenatally, and is associated with developmental delay in childhood. We tested the hypothesis that antenatally diagnosed isolated VM represents a biological marker
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::cf97b732db08eff819b117ea8125c613
Autor:
Pote, Inês
There is currently very little known about early brain development; even less about how normal development may be disrupted in individuals genetically predisposed to neurodevelopmental conditions, including autism spectrum disorder (ASD). Hence, by u
Externí odkaz:
https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.762320
Autor:
Flowers, Sarah
Publikováno v:
Young Adult Library Services. Fall2010, Vol. 9 Issue 1, p2-2. 1/2p.
Autor:
Vontell, Regina Theresa
Toll-like receptor-3 (TLR3) has been identified in a variety of intracellular structures of cells and has been shown to detect viral molecular patterns and damage-associated molecular patterns (DAMPs). This study investigates the cellular and subcell
Externí odkaz:
http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.733315
Autor:
Ann Short Chirhart, Betty Wood
This first of two volumes extends from the founding of the colony of Georgia in 1733 up to the Progressive era. From the beginning, Georgia women were instrumental in shaping the state, yet most histories minimize their contributions. The essays in t
Autor:
Sean M. Parr
Nothing strikes the ear quite like a soprano singing in the sonic stratosphere. Whether thrilling, chilling, or repellent to the listener, the reaction to cascades of coloratura with climaxing high notes is strong. Coloratura-agile, rapid-fire singin
Autor:
Carole H. Sudre, Roxane Licandro, Christian Baumgartner, Andrew Melbourne, Adrian Dalca, Jana Hutter, Ryutaro Tanno, Esra Abaci Turk, Koen Van Leemput, Jordina Torrents Barrena, William M. Wells, Christopher Macgowan
This book constitutes the refereed proceedings of the Third International Workshop on Uncertainty for Safe Utilization of Machine Learning in Medical Imaging, UNSURE 2021, and the 6th International Workshop on Preterm, Perinatal and Paediatric Image