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Debra S Regier

Showing results (31-40 of 38) with videos related to

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Bone|November 10, 2019
The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and interventionCarlos R Ferreira, Debra S Regier, Robin Yoon, et al.
American Journal of Medical Genetics. Part A|April 22, 2025
New Phenotypic Features in FGFR1-Related Osteoglophonic DysplasiaAmna A Othman, Holly E Babcock, Corey S Gill, et al.
American Journal of Medical Genetics. Part A|December 10, 2020
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysisMaxwell L Summerlin, Debra S Regier, Jamie L Fraser, et al.
American Journal of Medical Genetics. Part A|December 10, 2015
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosisDebra S Regier, Hyuk Joon Kwon, Jean Johnston, et al.
Clinical Genetics|May 17, 2023
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysisSeth I Berger, Georgia Pitsava, Andrea J Cohen, et al.
Genes|August 27, 2021
A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG CriteriaPleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 26, 2017
Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline ModelHeather L Gray-Edwards, Debra S Regier, Jamie L Shirley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2024
GM1 gangliosidosis type II: Results of a 10-year prospective studyPrecilla D'Souza, Cristan Farmer, Jean M Johnston, et al.
Pageof 4

Showing results (31-40 of 38) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 38 results.
Bone|November 10, 2019
The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and interventionCarlos R Ferreira, Debra S Regier, Robin Yoon, et al.
American Journal of Medical Genetics. Part A|April 22, 2025
New Phenotypic Features in FGFR1-Related Osteoglophonic DysplasiaAmna A Othman, Holly E Babcock, Corey S Gill, et al.
American Journal of Medical Genetics. Part A|December 10, 2020
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysisMaxwell L Summerlin, Debra S Regier, Jamie L Fraser, et al.
American Journal of Medical Genetics. Part A|December 10, 2015
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosisDebra S Regier, Hyuk Joon Kwon, Jean Johnston, et al.
Clinical Genetics|May 17, 2023
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysisSeth I Berger, Georgia Pitsava, Andrea J Cohen, et al.
Genes|August 27, 2021
A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG CriteriaPleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 26, 2017
Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline ModelHeather L Gray-Edwards, Debra S Regier, Jamie L Shirley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2024
GM1 gangliosidosis type II: Results of a 10-year prospective studyPrecilla D'Souza, Cristan Farmer, Jean M Johnston, et al.
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