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Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study by Drew B. Sinha, William L. Simpson, Andrew Ting, Louise Bier, Mary Freeman, Lauren Mackenzie Mason, George A. Diaz, Jaya Ganesh
Published 2025-06-01Get full text
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A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects. by Jinglan Zhang, Véronik Lachance, Adam Schaffner, Xianting Li, Anastasia Fedick, Lauren E Kaye, Jun Liao, Jill Rosenfeld, Naomi Yachelevich, Mary-Lynn Chu, Wendy G Mitchell, Richard G Boles, Ellen Moran, Mari Tokita, Elizabeth Gorman, Kaytee Bagley, Wei Zhang, Fan Xia, Magalie Leduc, Yaping Yang, Christine Eng, Lee-Jun Wong, Raphael Schiffmann, George A Diaz, Ruth Kornreich, Ryan Thummel, Melissa Wasserstein, Zhenyu Yue, Lisa Edelmann
Published 2016-04-01Get full text
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Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study by Jacqueline A. Odgis, Nicole R. Kelly, Monisha Sebastin, Laura Golfinopoulos, Beverly J. Insel, Sabrina A. Suckiel, Katherine E. Bonini, Priya N. Marathe, Miranda Di Biase, Kaitlyn Brown, Katie M. Gallagher, Michelle A. Ramos, Jessica E. Rodriguez, Nicole Yelton, Karla López Aguiñiga, Michelle A. Rodriguez, Estefany María, Jessenia Lopez, Randi E. Zinberg, George A. Diaz, John M. Greally, Noura S. Abul-Husn, Laurie J. Bauman, Bruce D. Gelb, Carol R. Horowitz, Eimear E. Kenny, Melissa P. Wasserstein
Published 2025-01-01Get full text
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