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Publications by Woutje M. Berdowski
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
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Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy
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Loss-Of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
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Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
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Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation
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Glucose Transporter Isoform-3 Mutations Cause Early Pregnancy Loss and Fetal Growth Restriction
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B Cell-Specific Loss of Lyn Kinase Leads to Autoimmunity
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De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
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Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
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