Хайлтын үр дүнгүүд - Traylor, Ryan N

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report -н Traylor, Ryan N, Fan, Zheng, Hudson, Beth, Rosenfeld, Jill A, Shaffer, Lisa G, Torchia, Beth S, Ballif, Blake C

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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes -н Rosenfeld, Jill A, Traylor, Ryan N, Schaefer, G Bradley, McPherson, Elizabeth W, Ballif, Blake C, Klopocki, Eva, Mundlos, Stefan, Shaffer, Lisa G, Aylsworth, Arthur S

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A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33 -н Traylor, Ryan N., Bruno, Damien L., Burgess, Trent, Wildin, Robert, Spencer, Anne, Ganesamoorthy, Devika, Amor, David J., Hunter, Matthew, Caplan, Michael, Rosenfeld, Jill A., Theisen, Aaron, Torchia, Beth S., Shaffer, Lisa G., Ballif, Blake C., Slater, Howard R.

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MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways -н Paciorkowski, Alex R., Traylor, Ryan N., Rosenfeld, Jill A., Hoover, Jacqueline M., Harris, Catharine J., Winter, Susan, Lacassie, Yves, Bialer, Martin, Lamb, Allen N., Schultz, Roger A., Berry-Kravis, Elizabeth, Porter, Brenda E., Falk, Marni, Venkat, Anu, Vanzo, Rena J., Cohen, Julie S., Fatemi, Ali, Dobyns, William B., Shaffer, Lisa G., Ballif, Blake C., Marsh, Eric D.

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Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities -н Ballif, Blake C., Theisen, Aaron, Rosenfeld, Jill A., Traylor, Ryan N., Gastier-Foster, Julie, Thrush, Devon Lamb, Astbury, Caroline, Bartholomew, Dennis, McBride, Kim L., Pyatt, Robert E., Shane, Kate, Smith, Wendy E., Banks, Valerie, Gallentine, William B., Brock, Pamela, Rudd, M. Katharine, Adam, Margaret P., Keene, Julia A., Phillips, John A., Pfotenhauer, Jean P., Gowans, Gordon C., Stankiewicz, Pawel, Bejjani, Bassem A., Shaffer, Lisa G.

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