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    Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification von Becerril, Alissa, Larson, Austin, Zerfas, Patricia M., Acosta, Maria T., Agrawal, Pankaj, Alejandro, Mercedes E., Andrews, Ashley, Bacino, Carlos A., Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Batzli, Gabriel F., Bayrak-Toydemir, Pinar, Bernstein, Jonathan A., Birch, Camille L., Bivona, Stephanie, Bohnsack, John, Bonnenmann, Carsten, Bostwick, Bret L., Brokamp, Elly, Burrage, Lindsay C., Carey, John, Clark, Gary D., Cope, Heidi, Dasari, Surendra, Dayal, Jyoti G., Dorset, Daniel C., Eng, Christine M., Esteves, Cecilia, Fresard, Laure, Goldman, Alica M., Goldstein, David B., Groden, Catherine A., Haendel, Melissa, Hayes, Nichole, Holm, Ingrid A., Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krakow, Deborah, Krasnewich, Donna M., Korrick, Susan, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lazar, Jozef, Levy, Shawn E., Liu, Xue Zhong, Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Marom, Ronit, Martínez-Agosto, Julian A., McCormack, Colleen E., McCray, Alexa T., Might, Matthew, Morava-Kozicz, Eva, Murdock, David R., Nath, Avi, Nelson, Stan F., Newman, John H., Orengo, James P., Pace, Laura, Papp, Jeanette C., Parker, Neil H., Potocki, Lorraine, Raja, Archana N., Reuter, Chloe M., Rives, Lynette, Rowley, Robb K., Sampson, Jacinda B., Saporta, Mario, Schedl, Timothy, Shields, Kathleen, Signer, Rebecca, Sillari, Catherine H., Sisco, Kathy, Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Wahl, Colleen E., Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Westerfield, Monte, Wheeler, Matthew T., Wolfe, Lynne A., Woods, Jeremy D., Worthey, Elizabeth A., Yamamoto, Shinya, Zuchner, Stephan, Day-Salvatore, Debra L., Mindell, Joseph A.


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    An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids von Ruiter, Jos P.N., van Lint, Alida E.M., Pras-Raves, Mia, Wever, Eric, Guillen Sacoto, Maria J., Begtrup, Amber, Tarnopolsky, Mark, Sell, Susan L., Nowak, Catherine B., Douglas, Jessica, Perlman, Seth, Martin, Nicole, Brault, Jennifer, Gahl, William A., Alejandro, Mercedes E., Dai, Hongzheng, Dhar, Shweta U., Hanchard, Neil A., Lee, Brendan H., Moretti, Paolo M., Murdock, David R., Nicholas, Sarah K., Potocki, Lorraine, Scott, Daryl A., Eng, Christine M., Deardorff, Matthew, Hassey, Kelly, Sullivan, Kathleen, Tan, Queenie K.-G., Beggs, Alan H., Berry, Gerard T., Cooper, Cynthia M., Pallais, J. Carl, Rodan, Lance H., Kelley, Emily G., Morava, Eva, Forghani, Irman, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Tekin, Mustafa, Thorson, Willa, Findley, Laurie C., Krasnewich, Donna M., Manolio, Teri A., Goldrich, Madison P., Draper, David D., Nath, Avi, Pusey, Barbara N., Toro, Camilo, Baker, Eva, Gochuico, Bernadette, Mosbrook-Davis, Deborah, Rossignol, Francis, Adam, Margaret, Amendola, Laura, Cunningham, Michael, Jarvik, Gail P., Jarvik, Jeffrey, Lam, Christina, Raskind, Wendy, Sybert, Virginia, Ashley, Euan A., Coakley, Terra R., Hom, Jason, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, Ruzhnikov, Maura, Tabor, Holly K., Tucker, Brianna M., Zastrow, Diane B., Byrd, William E., Dell’Angelica, Esteban C., Douine, Emilie D., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Parker, Neil H., Sinsheimer, Janet S., Wang, Lee-kai, Perry, Katherine Wesseling, Woods, Jeremy D., Pace, Laura, Marth, Gabor, Viskochil, Dave, Bayrak-Toydemir, Pinar, Duncan, Laura, Robertson, Amy K., Solem, Emily, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Waisfisz, Quinten, Zwijnenburg, Petra J.G., Wanders, Ronald J.A., Vaz, Frédéric M.

    Veröffentlicht in Genetics in medicine

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    Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy von Balestrini, Simona, Anders-Cannon, Jonny, Silvennoinen, Katri, Zagaglia, Sara, Pardington, Rosemarie, Ambrose, Karen, Avola, Alida, Barr, Genevieve, Bineva-Todd, Ganka, Bonnet, Dominique, Buck, Michael D., Busby, Louise, Byott, Matthew, Caidan, Simon, Carvalho, Luiz, Chandler, Natalie, Clayton, Bobbi, Collins, Zena, Cullup, Tom, Davies, Heledd, Davis, Patrick, Diaz-Romero, Monica, D'Avola, Annalisa, Edwards, Amelia, Faraway, Rupert, Fleming, James, Frederico, Bruno, Gaul, Liam, Goldman, Jacki, Goldstone, Robert, Grant, Paul R., Guedan, Anabel, Hall, Ross, Harris, Suzanne, Heaney, Judith, Hirani, Rajnika, Hope, Joshua, Howell, Michael, Howitt, Louise, Htun, Mint R., Hughes, Jane, Jenkins, Lucy, Kanu, Nnennaya, Kjaer, Svend, Knuepfer, Ellen, Lappin, Michelle, Marczak, Julie A., Martensson, Mimmi, Matthews, John, McCall, Samuel, Minutti, Carlos M., Montaner, Beatriz, Moore, Catherine, Moreira-Teixeira, Lucia, Naceur-Lombardelli, Cristina, Nelson, Aileen, Nicod, Jerome, Nightingale, Luke, Nofal, Stephanie, O'Reilly, Nicola, Patel, Namita, Patel, Yogen, Caballero, Ana Perez, Perrault, Magali S., Prieto-Godino, Lucia, Proust, Alize, Puvirajasinghe, Clinda, Queval, Christophe, Roberts, Fiona, Rodgers, Angela, Romero Clavijo, Pablo, Roustan, Chloe, Rowan, Andrew, Sait, Aaron, Sala, Katarzyna, Sanchez, Emilie, Santucci, Pierre, Sardar, Fatima, Shahmanesh, Maryam, Spyer, Moira J., Steel, Louisa, Sullivan, Adrienne E., Tautz-Davis, Zoe H., Taylor, Gunes, Taylor, Harriet B., Torelli, Francesca, Treeck, Moritz, Tsai, Ming-Han C., Venkatesan, Subramanian, Wang, Yiran, Wenman, Catharina, Williams, Luke, Williams, Matthew J., Zecchin, Davide, Zillwood, Rachel, Sisodiya, Sanjay M., Norris, Sarah, Rugg-Gunn, Fergus, Shaya, Gabriel, Singh, Priyanka

    Veröffentlicht in Epilepsy & behavior

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