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Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
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A 62-Year-Old Man with Progressive Limb Weakness, Involuntary Movements, and HyperCKemia
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A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Clinical Study of Nine Patients with ReNU Syndrome
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