检索结果 - Picker, Jonathan D

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

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