Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry von Chehimi, Samar N., Zanardo, Évelin A., Ceroni, José R. M., Nascimento, Amom M., Madia, Fabrícia A. R., Dias, Alexandre T., Filho, Gil M. N., Montenegro, Marília M., Damasceno, Jullian, Costa, Thaís V. M. M., Gasparini, Yanca, Kim, Chong A., Kulikowski, Leslie D.

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Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines von Gasparini, Yanca, Montenegro, Marília M., Novo-Filho, Gil M., Ceroni, José R.M., Honjo, Rachel S., Zanardo, Évelin A., Dias, Alexandre T., Nascimento, Amon M., Costa, Taís V.M.M., Madia, Fabrícia A., Chehimi, Samar N., Damasceno, Jullian G., Kim, Chong A., Kulikowski, Leslie D.

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Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? von Ceroni, José Rm, Yamamoto, Guilherme L, Honjo, Rachel S, Kim, Chong A, Passos-Bueno, Maria R, Bertola, Débora R

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Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? von Ceroni, José RM, Yamamoto, Guilherme L, Honjo, Rachel S, Kim, Chong A, Passos-Bueno, Maria R, Bertola, Débora R

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Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? von Ceroni, José RM, Yamamoto, Guilherme L, Honjo, Rachel S, Kim, Chong A, Passos-Bueno, Maria R, Bertola, Débora R

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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis von Kenna, Kevin P, van Doormaal, Perry T C, Dekker, Annelot M, Ticozzi, Nicola, Kenna, Brendan J, Diekstra, Frank P, van Rheenen, Wouter, van Eijk, Kristel R, Jones, Ashley R, Keagle, Pamela, Shatunov, Aleksey, Sproviero, William, Smith, Bradley N, van Es, Michael A, Topp, Simon D, Kenna, Aoife, Miller, Jack W, Fallini, Claudia, Tiloca, Cinzia, McLaughlin, Russell L, Vance, Caroline, Troakes, Claire, Colombrita, Claudia, Mora, Gabriele, Calvo, Andrea, Verde, Federico, Al-Sarraj, Safa, King, Andrew, Calini, Daniela, de Belleroche, Jacqueline, Baas, Frank, van der Kooi, Anneke J, de Visser, Marianne, ten Asbroek, Anneloor L M A, Sapp, Peter C, McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Muñoz-Blanco, José Luis, Strom, Tim M, Meitinger, Thomas, Morrison, Karen E, Lauria, Giuseppe, Williams, Kelly L, Leigh, P Nigel, Nicholson, Garth A, Blair, Ian P, Leblond, Claire S, Dion, Patrick A, Rouleau, Guy A, Pall, Hardev, Shaw, Pamela J, Turner, Martin R, Talbot, Kevin, Taroni, Franco, Boylan, Kevin B, Van Blitterswijk, Marka, Rademakers, Rosa, Esteban-Pérez, Jesús, García-Redondo, Alberto, Van Damme, Phillip, Robberecht, Wim, Chio, Adriano, Gellera, Cinzia, Drepper, Carsten, Sendtner, Michael, Ratti, Antonia, Glass, Jonathan D, Mora, Jesús S, Basak, Nazli A, Hardiman, Orla, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H, Brown, Robert H, Al-Chalabi, Ammar, Silani, Vincenzo, Shaw, Christopher E, van den Berg, Leonard H, Veldink, Jan H, Landers, John E

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways von Cirulli, Elizabeth T., Lasseigne, Brittany N., Petrovski, Slavé, Sapp, Peter C., Dion, Patrick A., Leblond, Claire S., Couthouis, Julien, Lu, Yi-Fan, Wang, Quanli, Krueger, Brian J., Ren, Zhong, Keebler, Jonathan, Han, Yujun, Levy, Shawn E., Boone, Braden E., Wimbish, Jack R., Waite, Lindsay L., Jones, Angela L., Carulli, John P., Day-Williams, Aaron G., Staropoli, John F., Xin, Winnie W., Chesi, Alessandra, Raphael, Alya R., McKenna-Yasek, Diane, Cady, Janet, de Jong, J. M. B. Vianney, Kenna, Kevin P., Smith, Bradley N., Topp, Simon, Miller, Jack, Gkazi, Athina, Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan, Silani, Vincenzo, Ticozzi, Nicola, Shaw, Christopher E., Baloh, Robert H., Appel, Stanley, Simpson, Ericka, Lagier-Tourenne, Clotilde, Pulst, Stefan M., Gibson, Summer, Trojanowski, John Q., Elman, Lauren, McCluskey, Leo, Grossman, Murray, Shneider, Neil A., Chung, Wendy K., Ravits, John M., Glass, Jonathan D., Sims, Katherine B., Van Deerlin, Vivianna M., Maniatis, Tom, Hayes, Sebastian D., Ordureau, Alban, Swarup, Sharan, Landers, John, Baas, Frank, Allen, Andrew S., Bedlack, Richard S., Harper, J. Wade, Gitler, Aaron D., Rouleau, Guy A., Brown, Robert, Harms, Matthew B., Cooper, Gregory M., Harris, Tim, Myers, Richard M., Goldstein, David B.

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Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals von Saida, Ken, Maroofian, Reza, Sengoku, Toru, Mitani, Tadahiro, Pagnamenta, Alistair T., Marafi, Dana, Zaki, Maha S., O’Brien, Thomas J., Karimiani, Ehsan Ghayoor, Kaiyrzhanov, Rauan, Takizawa, Marina, Ohori, Sachiko, Leong, Huey Yin, Akay, Gulsen, Galehdari, Hamid, Zamani, Mina, Romy, Ratna, Carroll, Christopher J., Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Malek, Hadis, Ahangari, Najmeh, Tomoum, Hoda, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Murphy, David, Dominik, Natalia, Elbendary, Hasnaa M., Rafat, Karima, Yilmaz, Sanem, Kanmaz, Seda, Serin, Mine, Krishnakumar, Deepa, Gardham, Alice, Maw, Anna, Rao, Tekki Sreenivasa, Alsubhi, Sarah, Srour, Myriam, Buhas, Daniela, Jewett, Tamison, Goldberg, Rachel E., Shamseldin, Hanan, Frengen, Eirik, Misceo, Doriana, Strømme, Petter, Magliocco Ceroni, José Ricardo, Kim, Chong Ae, Yesil, Gozde, Sengenc, Esma, Guler, Serhat, Hull, Mariam, Parnes, Mered, Aktas, Dilek, Anlar, Banu, Bayram, Yavuz, Pehlivan, Davut, Posey, Jennifer E., Alavi, Shahryar, Madani Manshadi, Seyed Ali, Alzaidan, Hamad, Al-Owain, Mohammad, Alabdi, Lama, Abdulwahab, Ferdous, Sekiguchi, Futoshi, Hamanaka, Kohei, Fujita, Atsushi, Uchiyama, Yuri, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Elshafie, Reem M., Salayev, Kamran, Guliyeva, Ulviyya, Alkuraya, Fowzan S., Gleeson, Joseph G., Monaghan, Kristin G., Langley, Katherine G., Yang, Hui, Motavaf, Mahsa, Safari, Saeid, Alipour, Mozhgan, Ogata, Kazuhiro, Brown, André E.X., Lupski, James R., Houlden, Henry, Matsumoto, Naomichi

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Consensus statement: Standardized reporting of power-producing luminescent solar concentrator performance von Yang, Chenchen, Atwater, Harry A., Baldo, Marc A., Baran, Derya, Barile, Christopher J., Barr, Miles C., Bates, Matthew, Bawendi, Moungi G., Bergren, Matthew R., Borhan, Babak, Brabec, Christoph J., Brovelli, Sergio, Bulović, Vladimir, Ceroni, Paola, Debije, Michael G., Delgado-Sanchez, Jose-Maria, Dong, Wen-Ji, Duxbury, Phillip M., Evans, Rachel C., Forrest, Stephen R., Gamelin, Daniel R., Giebink, Noel C., Gong, Xiao, Griffini, Gianmarco, Guo, Fei, Herrera, Christopher K., Ho-Baillie, Anita W.Y., Holmes, Russell J., Hong, Sung-Kyu, Kirchartz, Thomas, Levine, Benjamin G., Li, Hongbo, Li, Yilin, Liu, Dianyi, Loi, Maria A., Luscombe, Christine K., Makarov, Nikolay S., Mateen, Fahad, Mazzaro, Raffaello, McDaniel, Hunter, McGehee, Michael D., Meinardi, Francesco, Menéndez-Velázquez, Amador, Min, Jie, Mitzi, David B., Moemeni, Mehdi, Moon, Jun Hyuk, Nattestad, Andrew, Nazeeruddin, Mohammad K., Nogueira, Ana F., Paetzold, Ulrich W., Patrick, David L., Pucci, Andrea, Rand, Barry P., Reichmanis, Elsa, Richards, Bryce S., Roncali, Jean, Rosei, Federico, Schmidt, Timothy W., So, Franky, Tu, Chang-Ching, Vahdani, Aria, van Sark, Wilfried G.J.H.M., Verduzco, Rafael, Vomiero, Alberto, Wong, Wallace W.H., Wu, Kaifeng, Yip, Hin-Lap, Zhang, Xiaowei, Zhao, Haiguang, Lunt, Richard R.

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Análisis de los patrones espaciales del paisaje en un corredor biológico del macizo colombiano cauca von Orozco, Maria Camila, Ospina, Roman, Ceron, Luis Eduardo, Martinez, Juan Pablo

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