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Publications by Mariet W. Elting
Loss-Of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
American Journal of Human Genetics
Genetics
Related publications
Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy
Nature Communications
Astronomy
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Molecular Biology
Biochemistry
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Physics
Epileptic Encephalopathy
Journal of Child Neurology
Child Health
Neurology
Pediatrics
Perinatology
TBC1D8B Loss-Of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways
American Journal of Human Genetics
Genetics
Loss of UGP2 in Brain Leads to a Severe Epileptic Encephalopathy, Emphasizing That Bi-Allelic Isoform Specific Start-Loss Mutations of Essential Genes Can Cause Genetic Diseases
Cerebellar Ataxia Due to Lead Encephalopathy in an Adult
Journal of Neurology, Neurosurgery and Psychiatry
Psychiatry
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Early-Onset Epileptic Encephalopathy Caused by Gain-Of-Function Mutations in the Voltage Sensor of Kv7.2 and Kv7.3 Potassium Channel Subunits
Journal of Neuroscience
Neuroscience
Loss-Of-Function PTPRD Mutations Lead to Increased STAT3 Activation and Sensitivity to STAT3 Inhibition in Head and Neck Cancer
PLoS ONE
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KCNQ2-related Epileptic Encephalopathy
De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
American Journal of Human Genetics
Genetics
