Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community()

por Scott Schwoerer, Jessica, van Calcar, Sandra, Rice, Gregory M., Deline, James
Publicado 2016

Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay

por Zepeda‐Mendoza, Cinthya, Goodenberger, McKinsey L., Kuhl, Ashley, Rice, Gregory M., Hoppman, Nicole
Publicado 2019

Clinical relevance of the discrepancy in phenylalanine concentrations analyzed using tandem mass spectrometry compared with ion-exchange chromatography in phenylketonuria

por Stroup, Bridget M., Held, Patrice K., Williams, Phillip, Clayton, Murray K., Murali, Sangita G., Rice, Gregory M., Ney, Denise M.
Publicado 2016

Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial(1)(2)

por Ney, Denise M, Stroup, Bridget M, Clayton, Murray K, Murali, Sangita G, Rice, Gregory M, Rohr, Frances, Levy, Harvey L
Publicado 2016

TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

por Balestrini, Simona, Milh, Mathieu, Castiglioni, Claudia, Lüthy, Kevin, Finelli, Mattea J., Verstreken, Patrik, Cardon, Aaron, Stražišar, Barbara Gnidovec, Holder, J. Lloyd, Lesca, Gaetan, Mancardi, Maria M., Poulat, Anne L., Repetto, Gabriela M., Banka, Siddharth, Bilo, Leonilda, Birkeland, Laura E., Bosch, Friedrich, Brockmann, Knut, Cross, J. Helen, Doummar, Diane, Félix, Temis M., Giuliano, Fabienne, Hori, Mutsuki, Hüning, Irina, Kayserili, Hulia, Kini, Usha, Lees, Melissa M., Meenakshi, Girish, Mewasingh, Leena, Pagnamenta, Alistair T., Peluso, Silvio, Mey, Antje, Rice, Gregory M., Rosenfeld, Jill A., Taylor, Jenny C., Troester, Matthew M., Stanley, Christine M., Ville, Dorothee, Walkiewicz, Magdalena, Falace, Antonio, Fassio, Anna, Lemke, Johannes R., Biskup, Saskia, Tardif, Jessica, Ajeawung, Norbert F., Tolun, Aslihan, Corbett, Mark, Gecz, Jozef, Afawi, Zaid, Howell, Katherine B., Oliver, Karen L., Berkovic, Samuel F., Scheffer, Ingrid E., de Falco, Fabrizio A., Oliver, Peter L., Striano, Pasquale, Zara, Federico, Campeau, Phillipe M., Sisodiya, S.M.
Publicado 2016