Sökresultat med upphovsmän :: APM

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Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies av Wei‐Hua Lee, Hitoshi Higuchi, Sakae Ikeda, Erica L. Macke, Tetsuya Takimoto, Bikash R. Pattnaik, Che Liu, Li‐Fang Chu, Sandra M. Siepka, Kathleen J. Krentz, C. Dustin Rubinstein, Robert F. Kalejta, James A. Thomson, Robert F. Mullins, Joseph S. Takahashi, Lawrence H. Pinto, Akihiro Ikeda

Publicerad 2016

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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns av Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam, Iris Lange, Jing Zhang, Candace T. Myers, Christina Fenger, Zaid Afawi, Edith P. Almanza Fuerte, Danielle M. Andrade, Yunus Balcik, Bruria Ben Zeev, Mark F. Bennett, Samuel F. Berkovic, Bertrand Isidor, Arjan Bouman, Eva H. Brilstra, Øyvind L. Busk, Anita Cairns, Roseline Caumes, Nicolas Chatron, Russell C. Dale, Christa de Geus, Patrick Edery, Deepak Gill, Jacob Bie Granild-Jensen, Lauren Gunderson, Boudewijn Gunning, Gali Heimer, Johan Robert Helle, Michael S. Hildebrand, Georgie Hollingsworth, Volodymyr Kharytonov, Eric W. Klee, Bobby P.C. Koeleman, David A. Koolen, Christian Korff, Sébastien Küry, Gaëtan Lesca, Dorit Lev, Richard J. Leventer, Mark T. Mackay, Erica L. Macke, Meriel McEntagart, Shekeeb S. Mohammad, Pauline Monin, Martino Montomoli, Éva Morava, Sébastien Moutton, Alison M. Muir, Elena Parrini, Peter Procopis, Emmanuelle Ranza, Laura Reed, Philipp S. Reif, Felix Rosenow, Massimiliano Rossi, Lynette G. Sadleir, Tara Sadoway, Helenius J. Schelhaas, Amy L. Schneider, Krati Shah, Ruth S. Shalev, Sanjay M. Sisodiya, Thomas Smol, Connie T. R. M. Stumpel, Kyra E. Stuurman, Joseph D. Symonds, Frédéric Tran Mau‐Them, Nienke E. Verbeek, Judith Verhoeven, Geoff Wallace, Keren Yosovich, Yuri A. Zárate, Ayelet Zerem, Sameer M. Zuberi, Renzo Guerrini, Heather C. Mefford, Chirag Patel, Yue-Hua Zhang, Rikke S. Møller, Ingrid E. Scheffer

Publicerad 2020

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females av Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández, Lucia Pedace, Francesca Pantaleoni, Zhandong Liu, Elke de Boer, Adam Jackson, Alessandro Bruselles, Haley McConkey, Emilia Stellacci, Stefania Lo Cicero, Marialetizia Motta, Rosalba Carrozzo, Maria Lisa Dentici, Kirsty McWalter, Megha Desai, Kristin G. Monaghan, Aida Telegrafi, Christophe Philippe, Antonio Vitobello, Margaret Au, Katheryn Grand, Pedro A. Sanchez‐Lara, Joanne Baez, Kristin Lindstrom, Peggy Kulch, Jessica Sebastian, Suneeta Madan‐Khetarpal, Chelsea Roadhouse, Jennifer MacKenzie, Berrin Monteleone, Carol J. Saunders, July K. Jean Cuevas, Laura Cross, Dihong Zhou, Taila Hartley, Sarah L. Sawyer, Fabíola Paoli Monteiro, Tania Vertemati Secches, Fernando Kok, Laura Schultz‐Rogers, Erica L. Macke, Éva Morava, Eric W. Klee, Jennifer L. Kemppainen, Maria Iascone, Angelo Selicorni, Romano Tenconi, David J. Amor, Lynn Pais, Lyndon Gallacher, Peter D. Turnpenny, Karen Stals, Sian Ellard, Sara Cabet, Gaëtan Lesca, Pascal Joset, Katharina Steindl, Sarit Ravid, Karin Weiss, Alison M. R. Castle, Melissa T. Carter, Louisa Kalsner, Bert B.A. de Vries, Bregje W.M. van Bon, Marijke R. Wevers, Rolph Pfundt, Alexander P.A. Stegmann, Bronwyn Kerr, Helen Kingston, Kate Chandler, Willow Sheehan, Abdallah F. Elias, Deepali N. Shinde, Meghan C. Towne, Nathaniel H. Robin, Dana H. Goodloe, Adeline Vanderver, Omar Sherbini, Krista Bluske, R. Tanner Hagelstrom, Caterina Zanus, Flavio Faletra, Luciana Musante, Evangeline C. Kurtz‐Nelson, Rachel K. Earl, Britt‐Marie Anderlid, Gilles Morin, Marjon van Slegtenhorst, Karin E. M. Diderich, Alice S. Brooks, Joost Gribnau, Ruben Boers, Teresa Robert-Finestra, Lauren B. Carter, Anita Rauch, Paolo Gasparini

Publicerad 2021

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Bi-allelic variants in INTS11 are associated with a complex neurological disorder av Burak Tepe, Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers, Yuri A. Zárate, G. Bradley Schaefer, Jorge Luis Granadillo De Luque, Daniel Wegner, Benjamin Cogné, Brigitte Gilbert‐Dussardier, Xavier Le Guillou, Eric J. Wagner, Lynn Pais, Jennifer E. Neil, Ganeshwaran H. Mochida, Christopher A. Walsh, Nurit Magal, Valerie Drasinover, Mordechai Shohat, Tanya L. Schwab, C Schmitz, Karl J. Clark, Anthony L. Fine, Brendan C. Lanpher, Ralitza H. Gavrilova, Pierre Blanc, Lydie Bürglen, Alexandra Afenjar, Dora Steel, Manju A. Kurian, Prab Prabhakar, Sophie Gößwein, Nataliya Di Donato, Enrico Bertini, Michael F. Wangler, Shinya Yamamoto, Marco Tartaglia, Eric W. Klee, Hugo J. Bellen, Maria T. Acosta, Margaret P Adam, David R. Adams, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael J. Bamshad, Deborah Barbouth, Pınar Bayrak‐Toydemir, Anita Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennet, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John F. Bohnsack, Devon Bonner, Lorenzo D. Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Andrew B. Crouse, Michael L. Cunningham, Precilla D’Souza

Publicerad 2023

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