Correlation of FOXL2 mutation status with genomic imbalances in adult granulosa cell tumors of the ovary von Geiersbach, Katherine, Jarboe, Elke A, Jahromi, Mona S, Baker, Christine L, Paxton, Christian N, Tripp, Sheryl R, Schiffmann, Joshua D

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Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome von Kratz, C P, Achatz, Maria Isabel, Brugières, Laurence, Frebourg, Thierry, Garber, Judy E, Greer, Mary-Louise C, Hansford, Jordan R, Janeway, Katherine A, Kohlmann, Wendy K, McGee, Rose, Mullighan, Charles G, Onel, Kenan, Pajtler, Kristian W, Pfister, Stefan M, Savage, Sharon A, Schiffmann, Joshua, Schneider, K, Strong, Louise C, Evans, Dafydd, Wasserman, J, Villani, Anita, Malkin, David

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Baseline Surveillance in Li-Fraumeni Syndrome using whole body magnetic resonance imaging: A Meta-Analysis von Ballinger, Mandy L, Best, Ana, Mai, Phuong L, Khincha, Payal P, Loud, Jennifer T, Peters, June A, Achatz, Maria Isabel, Chojniak, Rubens, Balierio da Costa, Alexandre, Santiago, Karina Miranda, Garber, Judy, O'Neill, Allison, Eeles, Rosalind, Evans, Dafydd, Bleiker, Eveline, Sonke, Gabe S, Ruijs, Marielle, Loo, Claudette, Schiffmann, Joshua, Naumer, Anne, Kohlmann, Wendy K, Strong, Louise C, Bojadzieva, Jasmina, Malkin, David, Rednam, Surya P, Stoffel, Elena M, Koeppe, Erika, Weitzel, Jeffrey N, Slavin, Thomas P, Nehoray, Bita, Robson, Mark, Walsh, Michael, Manelli, Lorenzo, Villani, Anita, Thomas, David M, Savage, Sharon A

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DEVICE REGISTRATION von RYAN, Mark, LAING, Thalia, SCHIFFMANN, Joshua Serratelli

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Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease von Marshall, John, Ashe, Karen M, Bangari, Dinesh, McEachern, KerryAnne, Chuang, Wei-Lien, Pacheco, Joshua, Copeland, Diane P, Desnick, Robert J, Shayman, James A, Scheule, Ronald K, Cheng, Seng H

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A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects von Zhang, Jinglan, Lachance, Véronik, Schaffner, Adam, Li, Xianting, Fedick, Anastasia, Kaye, Lauren E, Liao, Jun, Rosenfeld, Jill, Yachelevich, Naomi, Chu, Mary-Lynn, Mitchell, Wendy G, Boles, Richard G, Moran, Ellen, Tokita, Mari, Gorman, Elizabeth, Bagley, Kaytee, Zhang, Wei, Xia, Fan, Leduc, Magalie, Yang, Yaping, Eng, Christine, Wong, Lee-Jun, Schiffmann, Raphael, Diaz, George A, Kornreich, Ruth, Thummel, Ryan, Wasserstein, Melissa, Yue, Zhenyu, Edelmann, Lisa

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Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations von Wolf, Nicole I, Vanderver, Adeline, van Spaendonk, Rosalina M.L, Schiffmann, Raphael, Brais, Bernard, Bugiani, Marianna, Sistermans, Erik, Catsman-Berrevoets, Coriene, Kros, Johan M, Pinto, Pedro Soares, Pohl, Daniela, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Fribourg, Sébastien, Demos, Michelle, Pizzino, Amy, Naidu, Sakkubai, Guerrero, Kether, van der Knaap, Marjo S, Bernard, Geneviève

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Disease specific therapies in leukodystrophies and leukoencephalopathies von Helman, Guy, Van Haren, Keith, Bonkowsky, Joshua L., Bernard, Genevieve, Pizzino, Amy, Braverman, Nancy, Suhr, Dean, Patterson, Marc C., Ali Fatemi, S., Leonard, Jeff, van der Knaap, Marjo S., Back, Stephen A., Damiani, Stephen, Goldman, Steven A., Takanohashi, Asako, Petryniak, Magdalena, Rowitch, David, Messing, Albee, Wrabetz, Lawrence, Schiffmann, Raphael, Eichler, Florian, Escolar, Maria L., Vanderver, Adeline

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Therapy Trial Design in Vanishing White Matter: An Expert Consortium Opinion von van der Knaap, Marjo S., Bonkowsky, Joshua L., Vanderver, Adeline, Schiffmann, Raphael, Krägeloh-Mann, Ingeborg, Bertini, Enrico, Bernard, Genevieve, Fatemi, Seyed Ali, Wolf, Nicole I., Saunier-Vivar, Elise, Rauner, Robert, Dekker, Hanka, van Bokhoven, Pieter, van de Ven, Peter, Leferink, Prisca S.

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