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Dopamine-Responsive Dystonia
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Neurodegeneration with Brain Iron Accumulation
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Huntington Disease: Clinical Features and Diagnosis
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Learning Disability
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Intelligence and the X Chromosome
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X-Linked Malformation of Neuronal Migration
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Advances in Molecular Analysis of Fragile X Syndrome
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Wilson Disease
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Population Screening for Fragile X
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Mental Retardation in Turner Syndrome
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
Ann Neurol 27:114-120, Kramer,P.L.,et al, 1990
The Triumph of Linkage Analysis, Editorial
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Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
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False Negative Results in Patients with fra (X) (q) Mental Retardation Taking Oral Vitamin Supplements
NEJM 316:1093, Froster-Iskenius,U.,et al, 1987
Hereditary Motor & Sensory Neuropathy, X-Linked:A Half Century Follow-Up
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Neurological Findings in Patients with the Fragile-X Syndrome
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Heterozygous Expression Of X-Linked Mental Retardation & X-chromosome Marker fra (X) (q27)
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X-Linked Mental Retardation
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The Fragile X-Chromosome Mental Retardation & Large Testes
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