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Publications by A Türkyılmaz
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
Related publications
Erratum To: Identification of Novel Mutations in MLC1 Responsible for Megalencephalic Leukoencephalopathy With Subcortical Cysts
Human Genetics
Genetics
Identification of Novel MLC1 Mutations in Chinese Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts (MLC)
Journal of Human Genetics
Genetics
Megalencephalic Leukoencephalopathy With Subcortical Cysts
Neurology
Neurology
Teaching NeuroImages: Resolution of MRI Abnormalities in Megalencephalic Leukoencephalopathy With Subcortical Cysts
Neurology
Neurology
Megalencephalic Leukoencephalopathy With Subcortical Cysts (MLC) – A Case With Clinical and Magnetic Resonance Imaging (MRI) Dissociation
Arquivos de Neuro-Psiquiatria
Biological Psychiatry
Neurology
Ab Initio Prediction of Mutation-Induced Cryptic Splice-Site Activation and Exon Skipping
European Journal of Human Genetics
Genetics
A Novel Aberrant Splice Site Mutation in the APC Gene
Journal of Medical Genetics
Genetics
Identification of a Novel Exonic Mutation at -13 From 5' Splice Site Causing Exon Skipping in a Girl With Mitochondrial Acetoacetyl-Coenzyme a Thiolase Deficiency.
Journal of Clinical Investigation
Medicine
A Novel Splice Site Mutation inSMARCAL1results in Aberrant Exon Definition in a Child With Schimke Immunoosseous Dysplasia
American Journal of Medical Genetics, Part A
Genetics
