Kết quả tìm kiếm - Picker, Jonathan D

New Innovations: Therapeutic opportunities for Intellectual disabilities Bằng Picker, Jonathan D., Walsh, Christopher A.

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A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene Bằng Rodan, Lance H, Cohen, Julie, Fatemi, Ali, Gillis, Tammy, Lucente, Diane, Gusella, James, Picker, Jonathan D

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A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene Bằng Rodan, Lance H, Cohen, Julie, Fatemi, Ali, Gillis, Tammy, Lucente, Diane, Gusella, James, Picker, Jonathan D

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Phenotypic Characterization of Mice Heterozygous for a Null Mutation of Glutamate Carboxypeptidase II Bằng Han, Liqun, Picker, Jonathan D., Schaevitz, Laura R., Tsai, Guochuan, Feng, Jiamin, Jiang, Zhichun, Chu, Hillary C., Basu, Alo C., Berger-Sweeney, Joanne, Coyle, Joseph T.

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Expanding the Phenotypic Spectrum Associated with OPHN1 Variants Bằng Schwartz, Talia S., Wojcik, Monica H., Pelletier, Renee C., Edward, Heather L., Picker, Jonathan D., Holm, Ingrid A., Towne, Meghan C., Beggs, Alan H., Agrawal, Pankaj B.

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Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes Bằng Schmitz-Abe, Klaus, Li, Qifei, Rosen, Samantha M., Nori, Neeharika, Madden, Jill A., Genetti, Casie A., Wojcik, Monica H., Ponnaluri, Sadhana, Gubbels, Cynthia S., Picker, Jonathan D., O’Donnell-Luria, Anne H., Yu, Timothy W., Bodamer, Olaf, Brownstein, Catherine A., Beggs, Alan H., Agrawal, Pankaj B.

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Expanding the phenotypic spectrum of GABRG2 variants: A recurrent GABRG2 missense variant associated with a severe phenotype Bằng Zou, Fanggeng, McWalter, Kirsty, Schmidt, Lindsay, Decker, Amy, Picker, Jonathan D., Lincoln, Sharyn, Sweetser, David A., Briere, Lauren C., Chellamani, Harini, Marsh, Eric, Medne, Livija, Wang, Raymond Y, Leydiker, Karen, Mower, Andrew, Visser, Gepke, Cuppen, Inge, van Gassen, Koen L, van der Smagt, Jasper, Yousaf, Adeel, Tennison, Michael, Shanmugham, Anita, Butler, Elizabeth, Richard, Gabriele, McKnight, Dianalee

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Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders Bằng Ching, Michael SL, Shen, Yiping, Tan, Wen-Hann, Jeste, Shafali S, Morrow, Eric M, Chen, Xiaoli, Mukaddes, Nahit M, Yoo, Seung-Yun, Hanson, Ellen, Hundley, Rachel, Austin, Christina, Becker, Ronald E, Berry, Gerard T, Driscoll, Katherine, Engle, Elizabeth C, Friedman, Sandra, Gusella, James F, Hisama, Fuki M, Irons, Mira B, Lafiosca, Tina, LeClair, Elaine, Miller, David T, Neessen, Michael, Picker, Jonathan D, Rappaport, Leonard, Rooney, Cynthia M, Sarco, Dean P, Stoler, Joan M, Walsh, Christopher A, Wolff, Robert R, Zhang, Ting, Nasir, Ramzi H, Wu, Bai-Lin

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