Prader-Willi and Angelman Syndromes
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
A 40-Year-Old Woman Presenting with Distal Leg Weakness
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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Clinicopath Conf., MELAS Syndrome
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Accelerated Aging of the Brain in Werner's Syndrome
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A Clinical Study of Noonan Syndrome
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Neurological Manifestations in Xeroderma Pigmentosum
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