The Phenotypic Continuum of ATP1A3-Related Disorders
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Duchenne Muscular Dystrophy
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Neurodevelopment and Cognition in Children After Enterovirus 71 Infection
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Phenylketonuria
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Prader-Willi and Angelman Syndromes
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
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Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
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A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Angelman Syndrome: Clinical Profile
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Joubert Syndrome:A Clinico-Radiological Study
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Congenital Muscular Dystrophy
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Alexander's Disease, A Disease of Astrocytes
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Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
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Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
NEJM 303:377-380, Hirschhorn,R.,et al, 1980
Congenital Ocular Motor Apraxia
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Neurological Complications of Infantile Osteopetrosis
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Congenital Anomalies & Herpesvirus Infection
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