Výsledky vyhledávání - Picker, Jonathan D

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

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A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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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