Concepedia

Minh Nguyen

MN

Statistics

Publications

3

Citations

162

H-Index

3

Active since

2015

Affiliations

Maastricht University Medical Centre(Current)

Erasmus University Rotterdam

Minh Nguyen is an author at Maastricht University Medical Centre specializing in medicine, genetics, and molecular diagnostics.

Top concepts

GeneticsMedicineGenomicsPathologyNeuropathologyMolecular GeneticsMolecular DiagnosticsNeurologySequencingOphthalmology

Publications per year

2015–2018

3

Publications

3

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

Tom E. J. Theunissen, Minh Nguyen, Rick Kamps et al. · Frontiers in Genetics · 2018 · 94 citations · Full text

Clinical Symptoms, Genetics, Genetic Epidemiology +20

Novel pathogenic <i><scp>SLC25A46</scp></i> splice‐site mutation causes an optic atrophy spectrum disorder

Minh Nguyen, Iris Boesten, Debby M.E.I. Hellebrekers et al. · Clinical Genetics · 2016 · 43 citations · Full text

Genetics, Slc25a46 Gene, Molecular Biology +16

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

Minh Nguyen, Iris Boesten, Debby M.E.I. Hellebrekers et al. · European Journal of Human Genetics · 2015 · 25 citations · Full text

Pathogenic Cwf19l1 Variants, Neurodegenerative Diseases, Mendelian Disorder +9

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