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    Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections von Mis, Emily K., Brodsky, Nina N., Ionita, Cristian, Darbinyan, Armine, Drummond-Borg, Margaret, McGee, Elisabeth, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Sapp, Katie, McKee, Shane, Rea, Gillian, Cooper, Nicola, O’Driscoll, Mary, Scurr, Ingrid, Abbs, Steve, Armstrong, Ruth, Raymond, Lucy, Green, Andrew, Cleary, Elaine, Lampe, Anne, Castle, Bruce, Loughlin, Sam, Izatt, Louise, Roworth, Wendy, Yau, Shu, Jewell, Rosalyn, Sarkar, Ajoy, Canham, Natalie, Burkitt-Wright, Emma, Jones, Elizabeth, Smith, Audrey, Wright, Ronnie, Henderson, Alex, Allen, Zoe, Bernhard, Birgitta, Busby, Louise, Clowes, Virginia, Blair, Edward, Stewart, Alison, Kamath, Arveen, Halai, D., Holman, J.E., Jackson, R., Lopez, F.J., Rogers, T., Savage, K., Sieghart, A., Thomas, E.R.A., Thompson, S.R., Tucci, A., Alejandro, Mercedes E., Amendola, Laura, Andrews, Ashley, Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bamshad, Michael, Bayrak-Toydemir, Pinar, Botto, Lorenzo, Coakley, Terra R., Coggins, Matthew, Cooper, Cynthia M., Cunningham, Michael, Dai, Hongzheng, Duncan, Laura, Fieg, Elizabeth L., Forghani, Irman, Hahn, Sihoun, Hanchard, Neil A., Hayes, Nichole, High, Frances, Hisama, Fuki M., Holm, Ingrid A., Jamal, Fariha, Kennedy, Jennifer, LeBlanc, Kimberly, Macnamara, Ellen F., Maduro, Valerie V., Mak, Bryan, McCauley, Jacob, McGee, Elisabeth, Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Pace, Laura, Potocki, Lorraine, Quinlan, Aaron, Raja, Archana N., Robertson, Amy K., Rodan, Lance H., Saporta, Mario, Schaechter, Judy, Signer, Rebecca, Solem, Emily, Solnica-Krezel, Lilianna, Sutton, Shirley, Velinder, Matt, Wheeler, Matthew T., Khokha, Mustafa K.

    Veröffentlicht in Genetics in medicine

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    Timeline to symptomatic Alzheimer's disease in people with Down syndrome as assessed by amyloid-PET and tau-PET: a longitudinal cohort study von Schworer, Emily K, Zammit, Matthew D, Wang, Jiebiao, Handen, Benjamin L, Betthauser, Tobey, Laymon, Charles M, Tudorascu, Dana L, Cohen, Annie D, Zaman, Shahid H, Ances, Beau M, Mapstone, Mark, Head, Elizabeth, Christian, Bradley T, Hartley, Sigan L, Aizenstein, Howard, Ances, Beau, Andrews, Howard, Bell, Karen, Birn, Rasmus, Brickman, Adam, Bulova, Peter, Cheema, Amrita, Chen, Kewei, Christian, Bradley, Clare, Isabel, Clark, Lorraine, Cohen, Ann, Constantino, John, Doran, Eric, Fagan, Anne, Feingold, Eleanor, Foroud, Tatiana, Handen, Benjamin, Harp, Jordan, Hartley, Sigan, Head, Elizabeth, Henson, Rachel, Hom, Christy, Honig, Lawrence, Ikonomovic, Milos, Johnson, Sterling, Jordan, Courtney, Kamboh, M. Ilyas, Keator, David, Klunk, William, Kofler, Julia, Kreisl, William, Krinsky-McHale, Sharon, Lai, Florence, Lao, Patrick, Laymon, Charles, Lee, Joseph, Lott, Ira, Lupson, Victoria, Mapstone, Mark, Mathis, Chester, Minhas, Davneet, Nadkarni, Neelesh, O'Bryant, Sid, Parisi, Melissa, Pang, Deborah, Petersen, Melissa, Price, Julie, Pulsifer, Margaret, Rafii, Michael, Reiman, Eric, Rizvi, Batool, Rosas, Diana, Ryan, Laurie, Schmitt, Frederick, Schupf, Nicole, Silverman, Wayne, Tudorascu, Dana, Tumuluru, Rameshwari, Tycko, Benjamin, Varadarajan, Badri, White, Desiree, Yassa, Michael, Zaman, Shahid, Zhang, Fan

    Veröffentlicht in Lancet neurology

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