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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Diagnosis of Gerstmann-Straussler Syndrome in Familial Dementia with Prion Protein Gene Analysis
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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