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    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias von Helbig, Katherine L., Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Uysal, Betül, Gandini, Maria A., Huang, Sun, Keren, Boris, Mignot, Cyril, Billette de Villemeur, Thierry, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kamsteeg, Erik-Jan, Koolen, David A., Gunning, Boudewijn, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Klee, Eric W., Tillema, Jan-Mendelt, Payne, Eric T., Cousin, Margot A., Kruisselbrink, Teresa M., Wick, Myra J., Baker, Joshua, Smith, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Corbett, Mark A., Goldmann, Eva, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E., Asamoah, Alexander, McCarrier, Julie, Botto, Lorenzo D., Tvrdik, Tatiana, Cascino, Gregory D., Klingerman, Sherry, Neumann, Catherine, Nolan, Melinda A., Snell, Russell G., Lehnert, Klaus, Sadleir, Lynette G., Kvarnung, Malin, Guerrini, Renzo, Friez, Michael J., Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, El Achkar, Christelle M., Smith, Lacey A., Carss, Keren J., Rankin, Julia, Zeman, Adam, Blyth, Moira, Kerr, Bronwyn, Ruiz, Karla, Urquhart, Jill, Banka, Siddharth, Scheffer, Ingrid E., Zamponi, Gerald W., Mefford, Heather C.


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    Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities von Atala, Kristhen, Dutta, Debdeep, Khanshour, Anas, Balasubramanyam, Ashok, Burrage, Lindsay C., Clark, Gary D., Ketkar, Shamika, Posey, Jennifer E., Rosenfeld, Jill A., Seto, Elaine, Scott, Daryl A., Tran, Alyssa A., Hubshman, Monika Weisz, Kanca, Oguz, Eng, Christine M., Falk, Marni, Hassey, Kelly, Zhang, Zhe, Mikati, Mohamad, Beggs, Alan H., Berry, Gerard T., Coggins, Matthew, Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Silverman, Edwin K., Sweetser, David A., Glanton, Emily, Maghiro, Audrey Stephannie C., McCray, Alexa T., Tan, Amelia L.M., Dasari, Surendra, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Borja, Nicholas, Gonzalez, Joanna M., Latchman, Kumarie, Tekin, Mustafa, Zuchner, Stephan, Gropman, Andrea, Macnamara, Ellen F., Maduro, Valerie V., Novacic, Donna, Toro, Camilo, Wahl, Colleen E., Adams, David R., Afzali, Ben, Burke, Elizabeth A., Fu, Jiayu, Wood, Heidi, Allworth, Aimee, Blue, Elizabeth, Chanprasert, Sirisak, Glass, Ian, Lam, Christina, Mirzaa, Ghayda, Raskind, Wendy, Alvarez, Raquel L., Bejerano, Gill, Bonner, Devon, Fisher, Paul G., Kohler, Jennefer N., Kravets, Elijah, Marwaha, Shruti, Ruzhnikov, Maura, Sutton, Shirley, Ungar, Rachel A., Crouse, Andrew B., Whitlock, Jordan, Butte, Manish J., Corona, Rosario, Dell'Angelica, Esteban C., Dorrani, Naghmeh, Fogel, Brent L., McGee, Elisabeth, Nieves-Rodriguez, Shirley, Alvey, Justin, Bohnsack, John, Moretti, Paolo, Quinlan, Aaron, Marth, Gabor, Bican, Anna, Cassini, Thomas, Corner, Brian, Hamid, Rizwan, Rives, Lynette, Robertson, Amy K., Ezell, Kimberly, Cogan, Joy D., Hayes, Nichole, Wegner, Daniel, Cole, F. Sessions, Schedl, Timothy, Wangler, Michael F., Bellen, Hugo J.

    Veröffentlicht in Genetics in medicine

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    Reducing the treatment gap for mental disorders: a WPA survey von PATEL, VIKRAM, MAJ, MARIO, FLISHER, ALAN J., SILVA, MARY J., KOSCHORKE, MIRJA, PRINCE, MARTIN, Tempier, Raymond, Riba, Michelle, Sanchez, Mauricio, Campodonico, Fabrizio Delgado, Risco, Luis, Gask, Linda, Wahlberg, Henrik, Roca, Miquel, Lecic‐Tosevski, Dusica, Soghoyan, Armen, Moussaoui, Driss, Baddoura, Charles, Adeyemi, Joseph, Rataemane, Solomon, Jalili, S. Ahmed, Mohandas, E, Shinfuku, Naotaka, Freidin, Julian, Stagnaro, Juan Carlos, Puig, Ines Josefina, Kirkby, Kenneth, Musalek, Michael, Ismayilov, Nadir, Rabbani, Golam, Harvey, Sharon, Sabbe, Bernard, Noya‐Tapia, Nils, Burgic‐Radmanovic, Marija, Hetem, Luiz Alberto, Vasconcellos, Fatima, Maass, Juan, Miranda, Carlos, Papaneophytou, Neophytos, Raboch, Jiri, Fink‐Jensen, Anders, Okasha, Ahmed, Korkeila, Jyrki, Guelfi, Julien Daniel, Schneider, Frank, Ohene, Sammy, Christodoulou, George, Soldatos, Constantin R., King, Emilio Quinto Barrera See, Mendoza, Mario, Kallivayalil, Roy Abraham, Gudarzi, Shahrokh S., Lafta, Mohammed R., Bassi, Mariano, Clerici, Massimo, Gibson, Roger, Kojima, Takuya, Nurmagambetova, Saltanat, Cho, Soo‐Churl, Kadyrova, Tamilla, Mikati, Nabil, Bajraktarov, Sojan, Yen, Teck Hoe, Ayushjav, Bayanhuu, Stevovic, Lidija Injac, Molina, José Santiago Sequeira, Gureje, Oye, Johannessen, Jan Olav, Chaudhry, Haroon Rashid, Al‐Ashhab, Bassam, Araszkiewicz, Aleksander, Prelipceanu, Dan, Krasnov, Valery, Bogdanov, Anatoly, Jasovic‐Gasic, Miroslava, Vavrusova, Livia, Pregelj, Peter, Liria, Alberto Fernandez, Abdelrahman, Abdallah, Udomratn, Pichet, Ulas, Halis, Gokalp, Peykan, Kigozi, Fred N., Richardson, Greg

    Veröffentlicht in World psychiatry

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    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias von Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Myers, Candace T., Schwarz, Niklas, Gandini, Maria A., Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, Billette de Villemeur, Thierry, Héron, Delphine, Nava, Caroline, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kibaek, Maria, Kamsteeg, Erik-Jan, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C., Klee, Eric W., Tillema, Jan-Mendelt, Cousin, Margot A., Baker, Joshua, Haan, Eric, Smith, Nicholas, Davis, Erica E., Katsanis, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Smith, Edward, Wiener, John, Corbett, Mark A., MacLennan, Alastair H., Biskup, Saskia, Rodan, Lance H., Segal, Eric, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D., Filloux, Francis, Klingerman, Sherry, Neumann, Catherine, Wang, Raymond, Jacobsen, Jessie C., Snell, Russell G., Lehnert, Klaus, Anderlid, Britt-Marie, Kvarnung, Malin, Guerrini, Renzo, Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, Smith, Lacey A., Rotenberg, Alexander, Poduri, Annapurna, Sanchis-Juan, Alba, Carss, Keren J., Rankin, Julia, Zeman, Adam, Raymond, F. Lucy, Blyth, Moira, Kerr, Bronwyn, Urquhart, Jill, Hughes, Imelda, Banka, Siddharth, Hedrich, Ulrike B.S., Scheffer, Ingrid E., Zamponi, Gerald W., Lerche, Holger, Mefford, Heather C.


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