Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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Spinal Muscular Atrophy
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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The Tuberous Sclerosis Complex
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Malignant Hyperthermia, Update on Susceptibility Testing
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Adrenoleukodystrophy
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Practice Parameter:Diagnostic Assessment of the Child with Cerebral Palsy
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Molecular Genetics in Neurology
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Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
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Conventional MRI and NOTCH3 Gene Screening in Sporadic CADASIL
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Disclosure of APOE Genotype for Risk of Alzheimers Disease
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Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
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What Level of Care for the Neurofibromatoses?
Lancet 353:1114-1116, Huson,S.M., 1999
Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
JAMA 277:832-836, Post,S.G.,et al, 1997
Apolipoprotein E Genotyping in Alzheimer's Disease
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Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
J Pediatr 129:611-614, Giangreco,C.A.,et al, 1996
Rapid Antibody Test for Fragile X Syndrome
Lancet 345:1147-1148, Willemsen,R.,et al, 1995
Statement of Use of Apolipoprotein E Testing for Alzheimer Disease
JAMA 274:1627-1629, Farrer,L.A.,et al, 1995
A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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Molecular Genetic Advances in Fragile X Syndrome
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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Detection of Full Fragile X Mutation
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Detecting Susceptibility to Malignant Hyperthermia
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