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International Journal of Neonatal Screening
|
April 23, 2024
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening
Mei Lietsch, Kee Chan, Jennifer Taylor, et al.
American Journal of Human Genetics
|
January 25, 2003
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy
Kristien Verhoeven, Peter De Jonghe, Katrien Coen, et al.
Annals of Clinical and Translational Neurology
|
May 14, 2022
An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy
Jennifer M Kwon, Kapil Arya, Nancy Kuntz, et al.
Journal of Inherited Metabolic Disease
|
December 15, 2011
Females experience a more severe disease course in Batten disease
Jennifer Cialone, Heather Adams, Erika F Augustine, et al.
World Journal of Pediatrics : WJP
|
March 25, 2019
Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy
Qing Ke, Zheng-Yan Zhao, Jerry R Mendell, et al.
Molecular Therapy. Nucleic Acids
|
March 10, 2025
Potential ASO-based personalized treatment for Charcot-Marie-Tooth disease type 2S
Sandra Smieszek, Bartlomiej Przychodzen, Christina Tyner, et al.
Journal of Child Neurology
|
October 6, 2010
Clinical seizures in neonatal hypoxic-ischemic encephalopathy have no independent impact on neurodevelopmental outcome: secondary analyses of data from the neonatal research network hypothermia trial
Jennifer M Kwon, Ronnie Guillet, Seetha Shankaran, et al.
Nature Medicine
|
December 8, 2025
Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trial
Jennifer M Kwon, Francina Munell, Laure Le Goff, et al.
Nature Medicine
|
January 28, 2026
Author Correction: Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trial
Jennifer M Kwon, Francina Munell, Laure Le Goff, et al.
Human Molecular Genetics
|
July 2, 2004
Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome
Jen C Wang, Anthony L Hinrichs, Heather Stock, et al.
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Search research articles
Search
Showing results (31-40 of 47) with videos related to
Sort By:
Page
of 5
International Journal of Neonatal Screening
|
April 23, 2024
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening
Mei Lietsch, Kee Chan, Jennifer Taylor, et al.
American Journal of Human Genetics
|
January 25, 2003
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy
Kristien Verhoeven, Peter De Jonghe, Katrien Coen, et al.
Annals of Clinical and Translational Neurology
|
May 14, 2022
An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy
Jennifer M Kwon, Kapil Arya, Nancy Kuntz, et al.
Journal of Inherited Metabolic Disease
|
December 15, 2011
Females experience a more severe disease course in Batten disease
Jennifer Cialone, Heather Adams, Erika F Augustine, et al.
World Journal of Pediatrics : WJP
|
March 25, 2019
Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy
Qing Ke, Zheng-Yan Zhao, Jerry R Mendell, et al.
Molecular Therapy. Nucleic Acids
|
March 10, 2025
Potential ASO-based personalized treatment for Charcot-Marie-Tooth disease type 2S
Sandra Smieszek, Bartlomiej Przychodzen, Christina Tyner, et al.
Journal of Child Neurology
|
October 6, 2010
Clinical seizures in neonatal hypoxic-ischemic encephalopathy have no independent impact on neurodevelopmental outcome: secondary analyses of data from the neonatal research network hypothermia trial
Jennifer M Kwon, Ronnie Guillet, Seetha Shankaran, et al.
Nature Medicine
|
December 8, 2025
Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trial
Jennifer M Kwon, Francina Munell, Laure Le Goff, et al.
Nature Medicine
|
January 28, 2026
Author Correction: Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trial
Jennifer M Kwon, Francina Munell, Laure Le Goff, et al.
Human Molecular Genetics
|
July 2, 2004
Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome
Jen C Wang, Anthony L Hinrichs, Heather Stock, et al.
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of 5