NAD Deficiency, Congenital Malformations, and Niacin Supplementation von Shi, Hongjun, Enriquez, Annabelle, Rapadas, Melissa, Martin, Ella M.M.A, Wang, Roni, Moreau, Julie, Lim, Chai K, Szot, Justin O, Ip, Eddie, Hughes, James N, Sugimoto, Kotaro, Humphreys, David T, McInerney-Leo, Aideen M, Leo, Paul J, Maghzal, Ghassan J, Halliday, Jake, Smith, Janine, Colley, Alison, Mark, Paul R, Collins, Felicity, Sillence, David O, Winlaw, David S, Ho, Joshua W.K, Guillemin, Gilles J, Brown, Matthew A, Kikuchi, Kazu, Thomas, Paul Q, Stocker, Roland, Giannoulatou, Eleni, Chapman, Gavin, Duncan, Emma L, Sparrow, Duncan B, Dunwoodie, Sally L

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Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy von Dawson, Ruby E., Nieto Guil, Alvaro F., Robertson, Louise J., Piltz, Sandra G., Hughes, James N., Thomas, Paul Q.

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PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome von Heron, Sarah E., Grinton, Bronwyn E., Kivity, Sara, Afawi, Zaid, Zuberi, Sameer M., Hughes, James N., Pridmore, Clair, Hodgson, Bree L., Iona, Xenia, Sadleir, Lynette G., Pelekanos, James, Herlenius, Eric, Goldberg-Stern, Hadassa, Bassan, Haim, Haan, Eric, Korczyn, Amos D., Gardner, Alison E., Corbett, Mark A., Gécz, Jozef, Thomas, Paul Q., Mulley, John C., Berkovic, Samuel F., Scheffer, Ingrid E., Dibbens, Leanne M.

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SOX3 promotes generation of committed spermatogonia in postnatal mouse testes von McAninch, Dale, Mäkelä, Juho-Antti, La, Hue M., Hughes, James N., Lovell-Badge, Robin, Hobbs, Robin M., Thomas, Paul Q.

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A system to enrich for primitive streak-derivatives, definitive endoderm and mesoderm, from pluripotent cells in culture von Vassilieva, Svetlana, Goh, Hwee Ngee, Lau, Kevin X, Hughes, James N, Familari, Mary, Rathjen, Peter D, Rathjen, Joy

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Mutations in DEPDC5 cause familial focal epilepsy with variable foci von Dibbens, Leanne M, de Vries, Boukje, Donatello, Simona, Heron, Sarah E, Hodgson, Bree L, Chintawar, Satyan, Crompton, Douglas E, Hughes, James N, Bellows, Susannah T, Klein, Karl Martin, Callenbach, Petra M C, Corbett, Mark A, Gardner, Alison E, Kivity, Sara, Iona, Xenia, Regan, Brigid M, Weller, Claudia M, Crimmins, Denis, O'Brien, Terence J, Guerrero-López, Rosa, Mulley, John C, Dubeau, Francois, Licchetta, Laura, Bisulli, Francesca, Cossette, Patrick, Thomas, Paul Q, Gecz, Jozef, Serratosa, Jose, Brouwer, Oebele F, Andermann, Frederick, Andermann, Eva, van den Maagdenberg, Arn M J M, Pandolfo, Massimo, Berkovic, Samuel F, Scheffer, Ingrid E

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Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism von Hughes, James N., Aubert, Matthew, Heatlie, Jessica, Gardner, Alison, Gecz, Jozef, Morgan, Thomas, Belsky, Joseph, Thomas, Paul Q.

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Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice von Pederick, Daniel T., Homan, Claire C., Jaehne, Emily J., Piltz, Sandra G., Haines, Bryan P., Baune, Bernhard T., Jolly, Lachlan A., Hughes, James N., Gecz, Jozef, Thomas, Paul Q.

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Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation von Polling, Saskia, Ormsby, Angelique R, Wood, Rebecca J, Lee, Kristie, Shoubridge, Cheryl, Hughes, James N, Thomas, Paul Q, Griffin, Michael D W, Hill, Andrew F, Bowden, Quill, Böcking, Till, Hatters, Danny M

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Manipulation of cell:cell contacts and mesoderm suppressing activity direct lineage choice from pluripotent primitive ectoderm-like cells in culture von Hughes, James N, Washington, Jennifer M, Zheng, Zhiqiang, Lau, Xiuwen K, Yap, Charlotte, Rathjen, Peter D, Rathjen, Joy

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Comparison of KP1019 and NAMI-A in tumour-mimetic environments von Gransbury, Gemma K, Kappen, Peter, Glover, Chris J, Hughes, James N, Levina, Aviva, Lay, Peter A, Musgrave, Ian F, Harris, Hugh H

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Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy von Pederick, Daniel T., Richards, Kay L., Piltz, Sandra G., Kumar, Raman, Mincheva-Tasheva, Stefka, Mandelstam, Simone A., Dale, Russell C., Scheffer, Ingrid E., Gecz, Jozef, Petrou, Steven, Hughes, James N., Thomas, Paul Q.

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A Novel Role for γ‐Secretase in the Formation of Primitive Streak‐like Intermediates from ES Cells in Culture von Hughes, James N., Dodge, Natasha, Rathjen, Peter D., Rathjen, Joy

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Response to BMP4 signalling during ES cell differentiation defines intermediates of the ectoderm lineage von Harvey, Nathan T, Hughes, James N, Lonic, Ana, Yap, Charlotte, Long, Catherine, Rathjen, Peter D, Rathjen, Joy

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Molecular Pathology of Polyalanine Expansion Disorders: New Perspectives from Mouse Models von Hughes, James N., Thomas, Paul Q.

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Polyalanine expansions drive a shift into [alpha]-helical clusters without amyloid-fibril formation von Polling, Saskia, Ormsby, Angelique R, Wood, Rebecca J, Lee, Kristie, Shoubridge, Cheryl, Hughes, James N, Thomas, Paul Q, Griffin, Michael D W, Hill, Andrew F, Bowden, Quill, Böcking, Till, Hatters, Danny M

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A System to Enrich for Primitive Streak-Derivatives, Definitive Endoderm and Mesoderm, from Pluripotent Cells in Culture von Vassilieva, Svetlana, Goh, Hwee Ngee, Lau, Kevin X, Hughes, James N, Familari, Mary, Rathjen, Peter D, Rathjen, Joy

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Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation von Polling, Saskia, Ormsby, Angelique R, Wood, Rebecca J, Lee, Kristie, Shoubridge, Cheryl, Hughes, James N, Thomas, Paul Q, Griffin, Michael D.W, Hill, Andrew F, Bowden, Quill, Bocking, Till, Hatters, Danny M

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Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation von Polling, Saskia, Ormsby, Angelique R, Wood, Rebecca J, Lee, Kristie, Shoubridge, Cheryl, Hughes, James N, Thomas, Paul Q, Griffin, Michael D.W, Hill, Andrew F, Bowden, Quill, Bocking, Till, Hatters, Danny M

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High voltage switch with cam operated high pressure contacts von HUGHES JAMES N

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