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Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023

Tuberous Sclerosis Complex:Clinical Features
www.UptoDate.com, Dec, Randle,S., et al, 2023

Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022

Autism
Lancet 383:896-910, Lai, M.C.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014

Extending the KCNQ2 encephalopathy Spectrum
Neurol 81:1697-1703, Weckhuysen, S.,et al, 2013

Presentation, Diagnosis, Pathophysiology, and Treatment of the Neurological Features of Sturge-Weber Syndrome
The Neurologist 17:179-184, Comi, A.M., 2011

Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009

Autism
Lancet 374:1627-1638, Levy,S.,et al, 2009

Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006



Showing articles 0 to 10 of 10