Treffer 1 - 20 von 52 für Suche 'McDonald, Heidi H', Suchdauer: 1,27s Treffer weiter einschränken
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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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    Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023) von Lin, Angela E., Scimone, Eleanor R., Thom, Robyn P., Balaguru, Duraisamy, Kinane, T. Bernard, Moschovis, Peter P., Cohen, Michael S., Tan, Weizhen, Hague, Cole D., Dannheim, Katelyn, Levitsky, Lynne L., Lilly, Evelyn, DiGiacomo, Daniel V., Masse, Kara M., Kadzielski, Sarah M., Zar‐Kessler, Claire A., Ginns, Leo C., Neumeyer, Ann M., Colvin, Mary K., Elder, Jack S., Learn, Christopher P., Mou, Hongmei, Weagle, Kathryn M., Buch, Karen A., Butler, William E., Alhadid, Kenda, Musolino, Patricia L., Sultana, Sadia, Bandyopadhyay, Dhrubajyoti, Rapalino, Otto, Peacock, Zachary S., Chou, Elizabeth L., Heidary, Gena, Dorfman, Aaron T., Morris, Shaine A., Bergin, James D., Rayment, Jonathan H., Schimmenti, Lisa A., Lindsay, Mark E., Acosta, Luisa Paredes, Bassetti, Jennifer A., Bowdin, Sarah, Bress, Joy A., Camarda, Joseph A., Chiu, Joanne S., Corrales, C. Eduardo, Costain, Gregory, Dinulos, Mary Beth P., Devanagondi, Rajiv, Doherty, Emily S., Dykes, John, Duhaime, Ann‐Christine, English, Robert F., Fieg, Elizabeth, Friedman, Nora D. B., Garabedian, Carl P., Glowacki, Samantha, Gottlieb, Barbara R., Griffin, Mary Hope, Hayes, Frances J., Hicks, Stephanie R., Hinze, Alicia M., Jason, Brigette A., Krier, Joel, Lindgren, Kristen, Lyons, Michael, Majid, Adnan, Mannem, Hannah C., McDonald, Marie, Misra, Vinod, Morgan, Amy, Nath, Barbara J., Ploutz, Michele, Prijoles, Eloise J., Pulsifer, Margaret B., Quesnel, Alicia M., Rajabi, Farrah, Rohanizadegan, Mersedeh, Rosales, Ana Maria, Rothermel, Holly, Schussler, Edith, Sellars, Elizabeth A., Shieh, Joseph, Sherrill, Stephanie, Taska‐Tench, Heidi, Thompson, Matthew, Tiller, George E., Vallee, Stephanie E., Viskochil, David, Ware, Stephanie, Whooten, Rachel C., Yang, Samuel, Zackai, Elaine H., Zakaria, Dala


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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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