Myoclonus in Ataxia–Telangiectasia

von Termsarasab, Pichet, Yang, Amy C., Frucht, Steven J.
Veröffentlicht in Tremor Other Hyperkinet Mov (N Y) (2015)

Intermediate Phenotypes of ATP1A3 Mutations: Phenotype–Genotype Correlations

von Termsarasab, Pichet, Yang, Amy C., Frucht, Steven J.
Veröffentlicht in Tremor Other Hyperkinet Mov (N Y) (2015)

A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents

von Wierenga, Klaas J., Jiang, Zhijie, Yang, Amy C., Mulvihill, John J., Tsinoremas, Nicholas F.
Veröffentlicht 2013

Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion

von Termsarasab, Pichet, Yang, Amy C., Reiner, Jennifer, Mei, Hui, Scott, Stuart A., Frucht, Steven J.
Veröffentlicht in Tremor Other Hyperkinet Mov (N Y) (2014)

Primary Cortisol Deficiency and Growth Hormone Deficiency in a Neonate With Hypoglycemia: Coincidence or Consequence?

von Gujral, Jasmine, Yau, Mabel, Yang, Amy C, Kastury, Rama, Romero, Christopher J, Wallach, Elizabeth, Wilkes, Meredith, Costin, Gertrude, Rapaport, Robert
Veröffentlicht in J Endocr Soc (2019)

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

von Yang, Amy C., Ng, Bobby G., Moore, Steven A., Rush, Jeffrey, Waechter, Charles J., Raymond, Kimiyo M., Willer, Tobias, Campbell, Kevin P., Freeze, Hudson H., Mehta, Lakshmi
Veröffentlicht 2013

ALG1-CDG: Clinical and molecular characterization of 39 unreported patients

von Ng, Bobby G., Shiryaev, Sergey A., Rymen, Daisy, Eklund, Erik A., Raymond, Kimiyo, Kircher, Martin, Abdenur, Jose E., Alehan, Fusun, Midro, Alina T., Bamshad, Michael J., Barone, Rita, Berry, Gerard T., Brumbaugh, Jane E., Buckingham, Kati J., Clarkson, Katie, Cole, F. Sessions, O'Connor, Shawn, Cooper, Gregory M., Van Coster, Rudy, Demmer, Laurie A., Diogo, Luisa, Fay, Alexander J., Ficicioglu, Can, Fiumara, Agata, Gahl, William A., Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A., He, Miao, Jaeken, Jaak, James, Philip M., Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J., Lachlan, Katherine, Lam, Christina, Yaplito-Lee, Joy, Nickerson, Deborah A., Peters, Heidi L., Race, Valerie, Régal, Luc, Rush, Jeffrey S., Rutledge, S. Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E., Trapane, Pamela, Sanchez-Valle, Amarilis, Vilain, Eric, Vøllo, Arve, Waechter, Charles J., Wang, Raymond Y., Wolfe, Lynne A., Wong, Derek A., Wood, Tim, Yang, Amy C., Matthijs, Gert, Freeze, Hudson H.
Veröffentlicht in Hum Mutat (2016)