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F.A. Hol

Radboud University Nijmegen Medical Centre

44

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A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum

2010 Clinical Genetics
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A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

2009 Case Reports
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Confirmation of Dyslexia Susceptibility Loci on Chromosomes 1p and 2p, but Not 6p in a Dutch Sib-Pair Collection

2008 American Journal of Medical Genetics
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Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene

2007 Annals of Neurology
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The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White.

2007 European Journal of Human Genetics
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Chronic progressive external ophthalmoplegia caused by an m.4267A>G mutation in the mitochondrial tRNAIle

2007 Journal of Neurology
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Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation.

2007 European Journal of Paediatric Neurology
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Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.

2007 European Journal of Human Genetics
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A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

2007 Journal of Medical Genetics
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Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome.

2006 American Journal of Medical Genetics Part A
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