An unusual cause of stroke and hypoxia
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Hereditary Hemorrhagic Telangiectasia
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Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Neuroimaging Features of Biotinidase Deficiency
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Sensorineural Hearing Loss in Children
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Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
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Spinocerebellar Ataxias and Ataxins
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