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Advances in Experimental Medicine and Biology
|
March 14, 2012
Leukodystrophies
Seth J Perlman, Soe Mar
Journal of Child Neurology
|
September 7, 2012
Childhood Graves disease masquerading as myasthenia gravis
Seth J Perlman, Craig M Zaidman
American Journal of Medical Genetics. Part A
|
March 16, 2013
Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions
Seth J Perlman, Shashikant Kulkarni, Linda Manwaring, et al.
Clinical Pediatrics
|
May 13, 2014
Response to Eculizumab in Escherichia coli O157: H7-induced hemolytic uremic syndrome with severe neurological manifestations
Arun Saini, Amanda R Emke, Manuel C Silva, et al.
PM & R : the Journal of Injury, Function, and Rehabilitation
|
January 19, 2023
Inpatient rehabilitation admission for a patient with spinal muscular atrophy status post gene therapy
Jaclyn C Omura, Casey L Freeman, Seth J Perlman, et al.
Journal of Child Neurology
|
April 12, 2013
Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup
Michael M Segal, Marc S Williams, Andrea L Gropman, et al.
Genetics in Medicine Open
|
November 1, 2024
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing
Jonathan Marquez, Jennifer N Cech, Cate R Paschal, et al.
American Journal of Human Genetics
|
July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variation
Danny E Miller, Arvis Sulovari, Tianyun Wang, et al.
Neurology
|
February 9, 2024
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial
Utkarsh J Dang, Jesse M Damsker, Michela Guglieri, et al.
JAMA Neurology
|
August 29, 2022
Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial
Michela Guglieri, Paula R Clemens, Seth J Perlman, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
Advances in Experimental Medicine and Biology
|
March 14, 2012
Leukodystrophies
Seth J Perlman, Soe Mar
Journal of Child Neurology
|
September 7, 2012
Childhood Graves disease masquerading as myasthenia gravis
Seth J Perlman, Craig M Zaidman
American Journal of Medical Genetics. Part A
|
March 16, 2013
Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions
Seth J Perlman, Shashikant Kulkarni, Linda Manwaring, et al.
Clinical Pediatrics
|
May 13, 2014
Response to Eculizumab in Escherichia coli O157: H7-induced hemolytic uremic syndrome with severe neurological manifestations
Arun Saini, Amanda R Emke, Manuel C Silva, et al.
PM & R : the Journal of Injury, Function, and Rehabilitation
|
January 19, 2023
Inpatient rehabilitation admission for a patient with spinal muscular atrophy status post gene therapy
Jaclyn C Omura, Casey L Freeman, Seth J Perlman, et al.
Journal of Child Neurology
|
April 12, 2013
Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup
Michael M Segal, Marc S Williams, Andrea L Gropman, et al.
Genetics in Medicine Open
|
November 1, 2024
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing
Jonathan Marquez, Jennifer N Cech, Cate R Paschal, et al.
American Journal of Human Genetics
|
July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variation
Danny E Miller, Arvis Sulovari, Tianyun Wang, et al.
Neurology
|
February 9, 2024
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial
Utkarsh J Dang, Jesse M Damsker, Michela Guglieri, et al.
JAMA Neurology
|
August 29, 2022
Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial
Michela Guglieri, Paula R Clemens, Seth J Perlman, et al.
Page
of 2