检索结果 - Batzir, Nurit Assia

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome) 由 Batzir, Nurit Assia, Posey, Jennifer E., Song, Xiaofei, Akdemir, Zeynep Coban, Rosenfeld, Jill A., Brown, Chester W., Chen, Emily X., Holtrop, Shannon, Mizerik, Elizabeth, Moreno, Margarita Nieto, Payne, Katelyn, Raas-Rothschild, Annick, Scott, Richard, Vernon, Hilary J., Zadeh, Neda, Lupski, James R., Sutton, V. Reid

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Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy 由 Batzir, Nurit Assia, Bhagwat, Pranjali K., Larson, Austin, Akdemir, Zeynep C., Bagłaj, Maciej, Bofferding, Leon, Bosanko, Katherine B., Bouassida, Skander, Callewaert, Bert, Cannon, Ashley, Colon, Yazmin E., Garnica, Adolfo D., Harr, Margaret H., Heck, Sandra, Hurst, Anna C., Jhangiani, Shalini N., Isidor, Bertrand, Littlejohn, Rebecca O., Liu, Pengfei, Magoulas, Pilar, Fan, Helen Mar, Marom, Ronit, McLean, Scott, Nezarati, Marjan M., Nugent, Kimberly M., Petersen, Michael B., Rocha, Maria L., Roeder, Elizabeth, Smigiel, Robert, Tully, Ian, Weisfeld-Adams, James, Wells, Katerina O., Lupski, James R., Beaudet, Arthur L., Wangler, Michael F.

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