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Maud Eriksson

Karolinska University Hospital

5

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151

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Novel alterations in the epigenetic signature of MeCP2-targeted promoters in lymphocytes of Rett syndrome patients.

2013 Epigenetics
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Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation.

2013 Molecular Genetics and Metabolism
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Molecular and clinical characterization of patients with overlapping 10p deletions

2010 American Journal of Medical Genetics Part A
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162 Long-Term Cardio-Respiratory Regulation in Children with Rett Syndrome

2010 Pediatric Research
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Disturbances in Cardiorespiratory Function During Day and Night in Rett Syndrome

2007 Pediatric Neurology
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Citations (63)