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Chromosome 20 Ring:A Chromosomal Disorder Associated with a Particular Electroclinical Pattern
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Angelman Syndrome: Clinical Profile
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Choroido-Cerebral Calcification Syndrome with Retardation
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Long-Term Outcome of Neonatal Meningitis
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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The Sequelae of Haemophilus Influenzae Meningitis in School-Age Children
NEJM 323:1657-1663, Taylor,G.H.,et al, 1990
Kearns-Sayre Syndrome with Hypoparathyroidism
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Kearns-Sayre Syndrome & Hypoparathyroidism
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Diffusion-Weighted Imaging of White Matter Abnormalities in Patients with Phenylketonuria
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Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
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Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
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Causal Heterogeneity in Isolated Lissencephaly
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Valproic Acid for the Treatment of Children with Mental Retardation and Mood Symptomatology
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Retinitis Pigmentosa
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
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Inapparent Congenital Cytomegalovirus Infection with Elevated Cord IgM Levels
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Congenital Anomalies & Herpesvirus Infection
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