M. Nguyen

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

H. Smeets, R. Kamps, B. de Koning, 2018, Front. Genet..

Novel pathogenic SLC25A46 splice‐site mutation causes an optic atrophy spectrum disorder

I. D. de Coo, H. Smeets, D. Hellebrekers, 2017, Clinical genetics.

Mouse Model of Human Congenital Heart Disease: Progressive Atrioventricular Block Induced by a Heterozygous Nkx2-5 Homeodomain Missense Mutation

Robert H. Anderson, H. Wakimoto, M. Silberbach, 2015, Circulation. Arrhythmia and electrophysiology.

A Complex Case of Polymyositis Overlapping With Hypothyroid Myopathy Without Underlying Autoimmune Thyroid Disorder

M. Schauer, Abhinav Garg, M. Nguyen, 2020, Cureus.

A Natural History Study of VCP Associated Vacuolar Myopathy in a Patient with the Common R155H Mutation

V. Kimonis, M. Nguyen, J. Plewa, 2020, Clinical and Experimental Investigations.

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

H. Smeets, R. Kamps, D. Hellebrekers, 2015, European Journal of Human Genetics.

Building a molecular typing protocol for rs1801133 based on real-time PCR HRM technique

Chuong Hoang Nguyen, Khoa Dang Le, Linh Thi Nhut Tran, 2019, Science and Technology Development Journal - Natural Sciences.