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Phenotypic variability in female individuals with the NAA10 missense variants p.(L126R), p.(L126V), or p.(F128L) leading to NAA10-related syndrome Buhler, Anja; Aigner-Radakovics, Katharina; Diofano, Federica; Marchi, Elaine; Weinmann-Emhardt, Karolina; Paquay, Amina; Lilja, Stephanie V.; Rosensteiner, Bernhard; Harpell, Randie; Bernard, Ewelina; Just, Steffen; Bittner, Reginald E.; Lyon, Gholson J.; Kustermann, Monika Share Save
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Numerical Skills Among Children With a Fragile X Premutation Kenepp, Amanda; Singh, Elijah; Hunter, Jessica Ezzell; Russell-Giller, Shira; Seehra, Sonia; Taveras, Shantal; Goldman, Rachel; Nagpal, Natalie; Adayev, Tatyana; Glicksman, Anne; Tortora, Nicole; Allen, Emily Graves; Shubeck, Lisa; Hinton, Veronica J. Share Save
Generation of a male isogenic pair and a female isogenic pair(R83C) for studying NAA10-related syndrome as part of a large Ogden syndrome biobank Patil, Soha; Patel, Naresh; Makwana, Rikhil; Nikte, Manali; Moroziewicz, Dorota; Zimmer, Matt; Hunter, Christopher; Monsma Jr, Frederick J.; Paull, Daniel; Wesely, Josephine; Lyon, Gholson J. Share Save
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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders Lessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor Share Save
Single-nucleus RNA sequencing reveals distinct pathophysiological trophoblast signatures in spontaneous preterm birth subtypes Uhm, Cherilyn; Gu, Jianlei; Ju, Weina; Pizzella, Stephanie; Oktay, Hande; Peng, Joyce Yao-Chun; Guariglia, Sararose; Liu, Yong; Zhao, Hongyu; Wang, Yong; Menon, Ramkumar; Zhong, Nanbert Share Save
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The mediating role of plasma glial fibrillary acidic protein in amyloid and tau pathology in Down's syndrome Boerwinkle, Anna H.; Wisch, Julie K.; Handen, Benjamin L.; Head, Elizabeth; Mapstone, Mark; Rafii, Michael S.; O'Bryant, Sid E.; Krinsky-McHale, Sharon J.; Lai, Florence; Rosas, H. Diana; Zaman, Shahid; Lott, Ira T.; Tudorascu, Dana; Zammit, Matthew; Brickman, Adam M.; Lee, Joseph H.; Ances, Beau M. Share Save
A pentavalent peptide vaccine elicits Aβ and tau antibodies with prophylactic activity in an Alzheimer's disease mouse model Song, Yiting; Dai, Chun-Ling; Shinohara, Mitsuru; Tung, Yunn Chyn; Zhou, Shiqi; Huang, Wei-Chiao; Seffouh, Amal; Luo, Yuan; Willadsen, Matthew; Jiao, Yang; Morishima, Maho; Saito, Yuko; Koh, Seong-Ho; Ortega, Joaquin; Gong, Cheng-Xin; Lovell, Jonathan F. Share Save
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FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea Rodrigues, Barbara; Sousa, Vanessa; Yrigollen, Carolyn M.; Tassone, Flora; Villate, Olatz; Allen, Emily G.; Glicksman, Anne; Tortora, Nicole; Nolin, Sarah L.; Nogueira, Antonio J. A.; Jorge, Paula Share Save
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Cognitive and functional performance and plasma biomarkers of early Alzheimer's disease in Down syndrome Schworer, Emily K.; Handen, Benjamin L.; Petersen, Melissa; O'Bryant, Sid; Peven, Jamie C.; Tudorascu, Dana L.; Lee, Laisze; Krinsky-McHale, Sharon J.; Hom, Christy L.; Clare, Isabel C. H.; Christian, Bradley T.; Schupf, Nicole; Lee, Joseph H.; Head, Elizabeth; Mapstone, Mark; Lott, Ira; Ances, Beau M.; Zaman, Shahid; Brickman, Adam M.; Lai, Florence; Rosas, H. Diana; Hartley, Sigan L. Share Save
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