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Publications by J. van der Steen
Erratum To: Identification of Novel Mutations in MLC1 Responsible for Megalencephalic Leukoencephalopathy With Subcortical Cysts
Human Genetics
Genetics
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Identification of Novel MLC1 Mutations in Chinese Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts (MLC)
Journal of Human Genetics
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Megalencephalic Leukoencephalopathy With Subcortical Cysts
Neurology
Neurology
A Novel Splice-Site Mutation on the MLC1 Gene Leading to Exon 9 Skipping and Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Turkish Patient
Balkan Journal of Medical Genetics
Genetics
Teaching NeuroImages: Resolution of MRI Abnormalities in Megalencephalic Leukoencephalopathy With Subcortical Cysts
Neurology
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Megalencephalic Leukoencephalopathy With Subcortical Cysts (MLC) – A Case With Clinical and Magnetic Resonance Imaging (MRI) Dissociation
Arquivos de Neuro-Psiquiatria
Biological Psychiatry
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
Novel NKX2-5 Mutations Responsible for Congenital Heart Disease
Heart
Cardiovascular Medicine
Cardiology
Novel NKX2-5 Mutations Responsible for Congenital Heart Disease
Genetics and Molecular Research
Medicine
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Molecular Biology
Two Novel Mutations Confirm FGD1 Is Responsible for the Aarskog Syndrome
European Journal of Human Genetics
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