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Medrxiv : the Preprint Server for Health Sciences
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March 31, 2025
Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status
Kendall 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 trial
Kathryn 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 alkaptonuria
Francis 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 allele
Kerri 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 allele
Kerri 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 disorders
Rebekah 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 cases
Francis Rossignol, Marvid S Duarte Moreno, Jean-François Benoist, et al.
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Search research articles
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Showing results (11-20 of 17) with videos related to
Sort By:
Page
of 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 Status
Kendall 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 trial
Kathryn 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 alkaptonuria
Francis 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 allele
Kerri 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 allele
Kerri 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 disorders
Rebekah 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 cases
Francis Rossignol, Marvid S Duarte Moreno, Jean-François Benoist, et al.
Page
of 2