Role of Electroencephalogram (EEG) and Magnetic Resonance Imaging (MRI) Findings in Early Recognition and Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 Disease
Ho, Mai-Lan, Wirrell, Elaine C, Petropoulou, Kalliopi, Sakonju, Ai, Chu, Dorna, Seratti, Guillermo, Palasis, Susan
Published in Journal of child neurology (01.12.2022)
Published in Journal of child neurology (01.12.2022)
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Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date
MacCarrick, Gretchen, Aradhya, Swaroop, Bailey, Mitch, Chu, Dorna, Hunt, Abigail, Izzo, Emanuela, Krakow, Deborah, Mackenzie, William, Poll, Sarah, Raggio, Cathleen, Shediac, Renée, White, Klane K., McLaughlin, Heather M., Seratti, Guillermo
Published in American journal of medical genetics. Part A (01.09.2024)
Published in American journal of medical genetics. Part A (01.09.2024)
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Understanding Sanfilippo syndrome signs, symptoms and physician testing patterns: Insights from the Simply Test for MPS™ enzyme-panel program (ST4MPS)
Gurnon, Stephanie, Pan, Wayne, Chu, Dorna, Ly, Christine, Wood, Tim, Pollard, Laura
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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Shortening the time between symptom onset and diagnosis for CLN2 disease: Results from Behind the Seizure™, a no-cost epilepsy gene panel testing program
Volz, Ashley, Chu, Dorna, Gurnon, Stephanie, Johnson, Tiara, Ly, Christine, Truty, Rebecca, Aradhya, Swaroop, Leal-Pardinas, Fernanda
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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eP409: Clinical utility of a sponsored, no-charge skeletal dysplasia gene panel testing program: Results from >2600 tests
MacCarrick, Gretchen, Mackenzie, William, Raggio, Cathleen, White, Klane, Krakow, Deborah, Izzo, Emanuela, Pansare, Vikram, Hunt, Abigail, Shediac, Renée, Chu, Dorna, Pang, Tiffany Yar, Poll, Sarah, McLaughlin, Heather, Seratti, Guillermo
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics
de los Reyes, Emily, Lehwald, Lenora, Augustine, Erika F., Berry-Kravis, Elizabeth, Butler, Karen, Cormier, Natalie, Demarest, Scott, Lu, Sam, Madden, Jacqueline, Olaya, Joffre, See, Susan, Vierhile, Amy, Wheless, James W., Yang, Amy, Cohen-Pfeffer, Jessica, Chu, Dorna, Leal-Pardinas, Fernanda, Wang, Raymond Y.
Published in Pediatric neurology (01.09.2020)
Published in Pediatric neurology (01.09.2020)
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Intracerebroventricular cerliponase alfa for CLN2 disease: Clinical practice considerations from US clinics
Wang, Raymond Y., de los Reyes, Emily, Lehwald, Lenora, Augustine, Erika, Berry-Kravis, Elizabeth, Butler, Karen, Cormier, Natalie, Demarest, Scott, Lu, Sam, Madden, Jacqueline, Olaya, Joffre, See, Susan, Vierhile, Amy, Wheless, James, Yang, Amy, Cohen-Pfeffer, Jessica, Chu, Dorna, Leal-Pardinas, Fernanda
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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