Zoekresultaten - Arn, Pamela

Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I door Arn, Pamela, Bruce, Iain A., Wraith, James E., Travers, Helen, Fallet, Shari

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The natural history of MPS I: global perspectives from the MPS I Registry door Beck, Michael, Arn, Pamela, Giugliani, Roberto, Muenzer, Joseph, Okuyama, Torayuki, Taylor, John, Fallet, Shari

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Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry door D’Aco, Kristin, Underhill, Lisa, Rangachari, Lakshmi, Arn, Pamela, Cox, Gerald F., Giugliani, Roberto, Okuyama, Torayuki, Wijburg, Frits, Kaplan, Paige

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TANGO2 Mutation: A Genetic Cause of Multifocal Combined Dystonia door Frey, Jessica, Burns, Matthew R., Chiu, Shannon Y., Wagle Shukla, Aparna, El Kouzi, Ahmad, Jackson, Jessica, Arn, Pamela H., Malaty, Irene A.

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

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

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

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