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Microplastics impede larval urchin selective feeding

The Science of the total environment, 2022-09, Vol.838 (Pt 1), p.155770-155770, Article 155770

2022

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Primary ovarian insufficiency in RMND1 mitochondrial disease

Mitochondrion, 2022-09, Vol.66, p.51-53

2022

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Tigecycline-induced inhibition of mitochondrial DNA translation may cause lethal mitochondrial dysfunction in humans

Clinical microbiology and infection, 2018-04, Vol.24 (4), p.431.e1-431.e3

2018

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Linezolid-Induced Inhibition of Mitochondrial Protein Synthesis

Clinical infectious diseases, 2006-04, Vol.42 (8), p.1111-1117

2006

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Are AZFb deletions always incompatible with sperm production?

Andrology (Oxford), 2017-07, Vol.5 (4), p.691-694

2017

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What can the CF registry tell us about rare CFTR-mutations? A Belgian study

Orphanet journal of rare diseases, 2017-08, Vol.12 (1), p.142-142, Article 142

2017

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TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria

Neurology, 2011-03, Vol.76 (11), p.988

2011

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Expanding the clinical spectrum of biallelic ZNF335 variants

Clinical genetics, 2018-08, Vol.94 (2), p.246-251

2018

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A new mutation in the calcium-sensing receptor gene causing hypocalcaemia: case report of a father and two sons

Netherlands journal of medicine, 2017-07, Vol.75 (6), p.253-255

2017

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Complex phenotype associated with mutation in the TANGO2 gene

European journal of paediatric neurology, 2017-06, Vol.21, p.e60-e60

2017

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Racial Misclassification of American Indians and Alaska Natives by Indian Health Service Contract Health Service Delivery Area

American journal of public health (1971), 2014-06, Vol.104 (S3), p.S295-S302

2014

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Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

Journal of medical genetics, 2004-02, Vol.41 (2), p.120-124

2004

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Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

Acta anaesthesiologica Scandinavica, 2012-04, Vol.56 (4), p.520-525

2012

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Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation

Journal of molecular medicine (Berlin, Germany), 2017-03, Vol.95 (3), p.299-309

2017

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Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C

Journal of neurology, neurosurgery and psychiatry, 2010, Vol.81 (1), p.90-93

2010

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Riboflavin-responsive ACAD9 mutation as cause of familial hypertrophic cardiomyopathy

European journal of paediatric neurology, 2017-06, Vol.21, p.e137-e137

2017

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Pathogenic mutations in TMEM126B, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S174-S175

2016

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PP05.6 – 2896: Genotype-phenotype correlations and counseling in carriers of Filamin A gene mutations

European journal of paediatric neurology, 2015-05, Vol.19, p.S47-S48

2015

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PP03.5 – 2756: Multiple symmetrical lipomatosis: An uncommon presentation of a mitochondrial disease

European journal of paediatric neurology, 2015-05, Vol.19, p.S37-S38

2015

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Methylation of the CpG sites in the myotonic dystrophy locus does not correlate with CTG expansion size or with the congenital form of the disease

Journal of medical genetics, 2010-10, Vol.47 (10), p.700-703

2010

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OP10 – 2707: Childhood-onset ataxic gait solved by muscle biopsy

European journal of paediatric neurology, 2015-05, Vol.19, p.S4-S4

2015

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PP03.14 – 2978: Massive early leukoencephalopathy caused by a pathogenic mutation in IBA57: A new clinical presentation for this recently described gene defect

European journal of paediatric neurology, 2015-05, Vol.19, p.S40-S40

2015

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Aminoacylase I deficiency: A novel inborn error of metabolism

Biochemical and biophysical research communications, 2005-12, Vol.338 (3), p.1322-1326

2005

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Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene

Clinical genetics, 2009-06, Vol.75 (6), p.585-587

2009

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Patient homozygous for a recessive POLG mutation presents with features of MERRF

Neurology, 2003-12, Vol.61 (12), p.1811

2003

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Microplastics impede larval urchin selective feeding

Primary ovarian insufficiency in RMND1 mitochondrial disease

Tigecycline-induced inhibition of mitochondrial DNA translation may cause lethal mitochondrial dysfunction in humans

Linezolid-Induced Inhibition of Mitochondrial Protein Synthesis

Are AZFb deletions always incompatible with sperm production?

What can the CF registry tell us about rare CFTR-mutations? A Belgian study

TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria

Expanding the clinical spectrum of biallelic ZNF335 variants

A new mutation in the calcium-sensing receptor gene causing hypocalcaemia: case report of a father and two sons

Complex phenotype associated with mutation in the TANGO2 gene

Racial Misclassification of American Indians and Alaska Natives by Indian Health Service Contract Health Service Delivery Area

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation

Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C

Riboflavin-responsive ACAD9 mutation as cause of familial hypertrophic cardiomyopathy

Pathogenic mutations in TMEM126B, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families

PP05.6 – 2896: Genotype-phenotype correlations and counseling in carriers of Filamin A gene mutations

PP03.5 – 2756: Multiple symmetrical lipomatosis: An uncommon presentation of a mitochondrial disease

Methylation of the CpG sites in the myotonic dystrophy locus does not correlate with CTG expansion size or with the congenital form of the disease

OP10 – 2707: Childhood-onset ataxic gait solved by muscle biopsy

PP03.14 – 2978: Massive early leukoencephalopathy caused by a pathogenic mutation in IBA57: A new clinical presentation for this recently described gene defect

Aminoacylase I deficiency: A novel inborn error of metabolism

Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene

Patient homozygous for a recessive POLG mutation presents with features of MERRF

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