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Francis Rossignol

Showing results (11-20 of 17) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|March 31, 2025
Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment StatusKendall A Flaharty, Vibha Chandrasekar, Irene J Castillo, et al.
Molecular Genetics and Metabolism|August 9, 2024
Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trialKathryn R Spears, Francis Rossignol, Monique B Perry, et al.
Molecular Genetics and Metabolism|October 10, 2025
Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuriaFrancis Rossignol, Kristen S Pan, Monique B Perry, et al.
Biochimica Et Biophysica Acta. Molecular Cell Research|September 2, 2023
ATP1A1-linked diseases require a malfunctioning protein product from one alleleKerri Spontarelli, Victoria C Young, Ryan Sweazey, et al.
Biorxiv : the Preprint Server for Biology|April 24, 2023
<i>ATP1A1</i> -linked diseases require a malfunctioning protein product from one alleleKerri Spontarelli, Victoria C Young, Ryan Sweazey, et al.
Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <i>MAGEL2</i>-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published casesFrancis Rossignol, Marvid S Duarte Moreno, Jean-François Benoist, et al.
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Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Medrxiv : the Preprint Server for Health Sciences|March 31, 2025
Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment StatusKendall A Flaharty, Vibha Chandrasekar, Irene J Castillo, et al.
Molecular Genetics and Metabolism|August 9, 2024
Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trialKathryn R Spears, Francis Rossignol, Monique B Perry, et al.
Molecular Genetics and Metabolism|October 10, 2025
Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuriaFrancis Rossignol, Kristen S Pan, Monique B Perry, et al.
Biochimica Et Biophysica Acta. Molecular Cell Research|September 2, 2023
ATP1A1-linked diseases require a malfunctioning protein product from one alleleKerri Spontarelli, Victoria C Young, Ryan Sweazey, et al.
Biorxiv : the Preprint Server for Biology|April 24, 2023
<i>ATP1A1</i> -linked diseases require a malfunctioning protein product from one alleleKerri Spontarelli, Victoria C Young, Ryan Sweazey, et al.
Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <i>MAGEL2</i>-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published casesFrancis Rossignol, Marvid S Duarte Moreno, Jean-François Benoist, et al.
Pageof 2