Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene von Kernohan, Kristin D., Dyment, David A., Pupavac, Mihaela, Cramer, Zvi, McBride, Arran, Bernard, Genevieve, Straub, Isabella, Tetreault, Martine, Hartley, Taila, Huang, Lijia, Sell, Erick, Majewski, Jacek, Rosenblatt, David S., Shoubridge, Eric, Mhanni, Aziz, Myers, Tara, Proud, Virginia, Vergano, Samanta, Spangler, Brooke, Farrow, Emily, Kussman, Jennifer, Safina, Nicole, Saunders, Carol, Boycott, Kym M., Thiffault, Isabelle

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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures von Gennarino, Vincenzo A., Palmer, Elizabeth E., McDonell, Laura M., Wang, Li, Adamski, Carolyn J., Koire, Amanda, See, Lauren, Chen, Chun-An, Schaaf, Christian P., Rosenfeld, Jill A., Panzer, Jessica A., Moog, Ute, Hao, Shuang, Bye, Ann, Kirk, Edwin P., Stankiewicz, Pawel, Breman, Amy M., McBride, Arran, Kandula, Tejaswi, Dubbs, Holly A., Macintosh, Rebecca, Cardamone, Michael, Zhu, Ying, Ying, Kevin, Dias, Kerith-Rae, Cho, Megan T., Henderson, Lindsay B., Baskin, Berivan, Morris, Paula, Tao, Jiang, Cowley, Mark J., Dinger, Marcel E., Roscioli, Tony, Caluseriu, Oana, Suchowersky, Oksana, Sachdev, Rani K., Lichtarge, Olivier, Tang, Jianrong, Boycott, Kym M., Holder, J. Lloyd, Zoghbi, Huda Y.

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Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia von Sleiman, Sophie, Marshall, Aren E, Dong, Xiaomin, Mhanni, Aziz, Alidou-D’Anjou, Ismaël, Frosk, Patrick, Marin, Samantha E, Stark, Zornitza, Del Bigio, Marc R, McBride, Arran, Sadedin, Simon, Gallacher, Lyndon, Christodoulou, John, Boycott, Kym M, Dragon, François, Kernohan, Kristin D

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p21 protein‐activated kinase 1 is associated with severe regressive autism, and epilepsy von Kernohan, Kristin D., McBride, Arran, Hartley, Taila, Rojas, Samantha K., Dyment, David A., Boycott, Kym M., Dyack, Sarah

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Colorimetric and near-infrared fluorescence turn-on molecular probe for direct and highly selective detection ofcysteine in human plasma von Hao, Wenhui, McBride, Arran, McBride, Skye, Gao, Jian Ping, Wang, Zhi Yuan

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A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome von White, Susan M., Bhoj, Elizabeth, Nellåker, Christoffer, Lachmeijer, Augusta M.A., Marshall, Aren E., Boycott, Kym M., Li, Dong, Smith, Wendy, Hartley, Taila, McBride, Arran, Ernst, Michelle E., May, Alison S., Wieczorek, Dagmar, Abou Jamra, Rami, Koch-Hogrebe, Margarete, Õunap, Katrin, Pajusalu, Sander, van Gassen, K.L.I., Sadedin, Simon, Ellingwood, Sara, Tan, Tiong Yang, Christodoulou, John, Barea, Jaime, Lockhart, Paul J., Nezarati, Marjan M., Kernohan, Kristin D.

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Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome von Schenkel, Laila C, Kernohan, Kristin D, McBride, Arran, Reina, Ditta, Hodge, Amanda, Ainsworth, Peter J, Rodenhiser, David I, Pare, Guillaume, Bérubé, Nathalie G, Skinner, Cindy, Boycott, Kym M, Schwartz, Charles, Sadikovic, Bekim

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Colorimetric and near-infrared fluorescence turn-on molecular probe for direct and highly selective detection of cysteine in human plasma von Hao, Wenhui, McBride, Arran, McBride, Skye, Gao, Jian Ping, Wang, Zhi Yuan

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Whole‐transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy von Kernohan, Kristin D., Frésard, Laure, Zappala, Zachary, Hartley, Taila, Smith, Kevin S., Wagner, Justin, Xu, Hongbin, McBride, Arran, Bourque, Pierre R., Consortium, Care4Rare Canada, Bennett, Steffany A. L., Dyment, David A., Boycott, Kym M., Montgomery, Stephen B., Warman Chardon, Jodi

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Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy: KERNOHAN et al von Kernohan, Kristin D., Frésard, Laure, Zappala, Zachary, Hartley, Taila, Smith, Kevin S., Wagner, Justin, Xu, Hongbin, McBride, Arran, Bourque, Pierre R., Consortium, CareRare Canada, Bennett, Steffany A. L., Dyment, David A., Boycott, Kym M., Montgomery, Stephen B., Warman Chardon, Jodi

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Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction von Warman-Chardon, Jodi, Hartley, Taila, Marshall, Aren Elizabeth, McBride, Arran, Couse, Madeline, Macdonald, William, Mann, Mellissa R W, Bourque, Pierre R, Breiner, Ari, Lochmüller, Hanns, Woulfe, John, Sampaio, Marcos Loreto, Melkus, Gerd, Brais, Bernard, Dyment, David A, Boycott, Kym M, Kernohan, Kristin

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Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1 ) gene: KERNOHAN et al von Kernohan, Kristin D., Dyment, David A., Pupavac, Mihaela, Cramer, Zvi, McBride, Arran, Bernard, Genevieve, Straub, Isabella, Tetreault, Martine, Hartley, Taila, Huang, Lijia, Sell, Erick, Majewski, Jacek, Rosenblatt, David S., Shoubridge, Eric, Mhanni, Aziz, Myers, Tara, Proud, Virginia, Vergano, Samanta, Spangler, Brooke, Farrow, Emily, Kussman, Jennifer, Safina, Nicole, Saunders, Carol, Boycott, Kym M., Thiffault, Isabelle

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Colorimetric and near-infrared fluorescence turn-on molecular probe for direct and highly selective detection of cysteine in human plasmaElectronic supplementary information (ESI)... von Hao, Wenhui, McBride, Arran, McBride, Skye, Gao, Jian Ping, Wang, Zhi Yuan

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MOESM2 of Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome von Schenkel, Laila, Kernohan, Kristin, McBride, Arran, Reina, Ditta, Hodge, Amanda, Ainsworth, Peter, Rodenhiser, David, Pare, Guillaume, Bérubé, Nathalie, Skinner, Cindy, Boycott, Kym, Schwartz, Charles, Sadikovic, Bekim

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MOESM1 of Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome von Schenkel, Laila, Kernohan, Kristin, McBride, Arran, Reina, Ditta, Hodge, Amanda, Ainsworth, Peter, Rodenhiser, David, Pare, Guillaume, BĂŠrubĂŠ, Nathalie, Skinner, Cindy, Boycott, Kym, Schwartz, Charles, Sadikovic, Bekim

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