Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
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Ehlers-Danlos Syndromes
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Neurological Management of Von Hippel-Lindau Disease
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The Tuberous Sclerosis Complex
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Recurrent Cerebral Ischemia During Pregnancies
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A 10-year-old boy with Bilateral Vision Loss
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Molybdenum Cofactor Deficiency
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Autism
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Sensorineural Hearing Loss in Children
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Adrenoleukodystrophy
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998
Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
Lancet 349:4, Bundey,S., 1997
Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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The Prevention of Neurogenetic Disease
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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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The Psychological Consequences of Predictive Testing for Huntington's Disease
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A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
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Genetic Testing for Huntington's Disease
BMJ 300:1089-1090, Harper,P.,et al, 1990
Predictive Testing for Huntington's Disease, Progress and Problems
BMJ 298:404-405, 1989, Harper,P.S.&Morris,M.J., 1989
Diagnosis of Gerstmann-Straussler Syndrome in Familial Dementia with Prion Protein Gene Analysis
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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Presymptomatic Testing for Huntington's Disease
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