Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
NEJM 370:Doi:10.1056/NEJMoal1401268, Wilson, M.R.,et al, 2014
Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Whipples Disease
NEJM 356:55-66, Fenollar,F.,et al, 2007
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
Lancet 337:1311-1313, Hammans,S.R.,et al, 1991