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Human Mutation
|
September 24, 2017
Molecular and clinical spectra of FBXL4 deficiency
Ayman W El-Hattab, Hongzheng Dai, Mohammed Almannai, et al.
Brain : a Journal of Neurology
|
July 5, 2014
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers
Niccolò E Mencacci, Ioannis U Isaias, Martin M Reich, et al.
Molecular Genetics and Metabolism
|
June 22, 2023
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, et al.
Annals of Neurology
|
July 1, 2025
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series
Sarah M Brooker, Maria Novelli, Robert Coukos, et al.
The Lancet. Neurology
|
October 25, 2020
Monogenic variants in dystonia: an exome-wide sequencing study
Michael Zech, Robert Jech, Sylvia Boesch, et al.
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Search research articles
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Showing results (91-100 of 95) with videos related to
Sort By:
Page
of 10
You have reached the last page of results.
This site can display upto 95 results.
Human Mutation
|
September 24, 2017
Molecular and clinical spectra of FBXL4 deficiency
Ayman W El-Hattab, Hongzheng Dai, Mohammed Almannai, et al.
Brain : a Journal of Neurology
|
July 5, 2014
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers
Niccolò E Mencacci, Ioannis U Isaias, Martin M Reich, et al.
Molecular Genetics and Metabolism
|
June 22, 2023
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, et al.
Annals of Neurology
|
July 1, 2025
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series
Sarah M Brooker, Maria Novelli, Robert Coukos, et al.
The Lancet. Neurology
|
October 25, 2020
Monogenic variants in dystonia: an exome-wide sequencing study
Michael Zech, Robert Jech, Sylvia Boesch, et al.
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of 10