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Annals of Neurology
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September 17, 2014
Absent CNKSR2 causes seizures and intellectual, attention, and language deficits
Andrea K Vaags, Sarah Bowdin, Mary-Lou Smith, et al.
Molecular Genetics and Metabolism
|
December 21, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots
Federica Conte, Eva Morava, Nurulamin Abu Bakar, et al.
The Journal of Pediatrics
|
May 22, 2016
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency
Sunnie Yan-Wai Wong, Lesa J Beamer, Therese Gadomski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 16, 2017
Oral D-galactose supplementation in PGM1-CDG
Sunnie Yan-Wai Wong, Therese Gadomski, Monique van Scherpenzeel, et al.
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of 6
Search research articles
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Showing results (51-60 of 54) with videos related to
Sort By:
Page
of 6
You have reached the last page of results.
This site can display upto 54 results.
Annals of Neurology
|
September 17, 2014
Absent CNKSR2 causes seizures and intellectual, attention, and language deficits
Andrea K Vaags, Sarah Bowdin, Mary-Lou Smith, et al.
Molecular Genetics and Metabolism
|
December 21, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots
Federica Conte, Eva Morava, Nurulamin Abu Bakar, et al.
The Journal of Pediatrics
|
May 22, 2016
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency
Sunnie Yan-Wai Wong, Lesa J Beamer, Therese Gadomski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 16, 2017
Oral D-galactose supplementation in PGM1-CDG
Sunnie Yan-Wai Wong, Therese Gadomski, Monique van Scherpenzeel, et al.
Page
of 6