Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I

od Arn, Pamela, Bruce, Iain A., Wraith, James E., Travers, Helen, Fallet, Shari
Izdano u Ann Otol Rhinol Laryngol (2015)

The natural history of MPS I: global perspectives from the MPS I Registry

od Beck, Michael, Arn, Pamela, Giugliani, Roberto, Muenzer, Joseph, Okuyama, Torayuki, Taylor, John, Fallet, Shari
Izdano 2014

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry

od D’Aco, Kristin, Underhill, Lisa, Rangachari, Lakshmi, Arn, Pamela, Cox, Gerald F., Giugliani, Roberto, Okuyama, Torayuki, Wijburg, Frits, Kaplan, Paige
Izdano 2012

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

od Knapp, Karen M, Sullivan, Rosie, Murray, Jennie, Gimenez, Gregory, Arn, Pamela, D'Souza, Precilla, Gezdirici, Alper, Wilson, William G, Jackson, Andrew P, Ferreira, Carlos, Bicknell, Louise S
Izdano u J Med Genet (2020)

Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase

od Demirbas, Didem, Harris, David J., Arn, Pamela H., Huang, Xiaoping, Waisbren, Susan E., Anselm, Irina, Lerner‐Ellis, Jordan P., Wong, Lee‐Jun, Levy, Harvey L., Berry, Gerard T.
Izdano u JIMD Rep (2019)

Mutations in the TGF-β Repressor SKI Cause Shprintzen-Goldberg Syndrome with Aortic Aneurysm

od Doyle, Alexander J., Doyle, Jefferson J., Bessling, Seneca L., Maragh, Samantha, Lindsay, Mark E., Schepers, Dorien, Gillis, Elisabeth, Mortier, Geert, Homfray, Tessa, Sauls, Kimberly, Norris, Russell A., Huso, Nicholas D., Leahy, Dan, Mohr, David W., Caulfield, Mark J., Scott, Alan F., Destrée, Anne, Hennekam, Raoul C., Arn, Pamela H., Curry, Cynthia J., Van Laer, Lut, McCallion, Andrew S., Loeys, Bart L., Dietz, Harry C.
Izdano 2012