A. Hendrickx

发表

Mitochondrial DNA damage analysis in bronchoalveolar lavage cells of preterm infants.

H. Smeets, L. Zimmermann, E. Villamor, 2010, Frontiers in bioscience.

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..

Additional mitochondrial DNA mutations may explain extra‐ocular involvement in LHON

I. D. de Coo, H. Smeets, P. D. de Jong, 2006, American journal of medical genetics. Part A.

Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

H. Smeets, F. Jansen, M. Haak, 2016, Clinical case reports.

PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring.

I. D. de Coo, H. Smeets, P. Chinnery, 2012, Human reproduction update.

De novo mtDNA point mutations are common and have a low recurrence risk

Robert W. Taylor, H. Smeets, C. D. de Die-Smulders, 2016, Journal of Medical Genetics.

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.

H. Smeets, R. Wanders, B. J. van den Bosch, 2015, JIMD reports.

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

H. Smeets, J. Bierau, S. Sallevelt, 2017, European Journal of Human Genetics.

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole‐Exome Sequencing

Radek Szklarczyk, H. Smeets, R. Kamps, 2017, The Journal of pediatrics.

Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution.

A. Voets, H. Smeets, B. J. van den Bosch, 2011, Mitochondrion.

The unfolding clinical spectrum of POLG mutations

H. Smeets, B. J. van den Bosch, B. Poll-The, 2009, Journal of Medical Genetics.

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

Robert W. Taylor, H. Smeets, G. Falkous, 2019, Neuromuscular Disorders.

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

I. D. de Coo, H. Smeets, B. J. van den Bosch, 2009, Journal of Medical Genetics.

A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

H. Smeets, R. Hintzen, W. Sluiter, 2007, Archives of neurology.

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease

I. D. de Coo, H. Smeets, M. Blok, 2007, Journal of Medical Genetics.

Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients

H. Smeets, V. Tiranti, R. Hintzen, 2006, Genetics in Medicine.

Inherited mitochondrial variants are not a major cause of age-related hearing impairment in the European population.

A. Voets, H. Smeets, J. Huyghe, 2011, Mitochondrion.

Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene

H. Smeets, G. Jong, I. D. Coo, 2004, Neuromuscular Disorders.