The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Congenital Cytomegalovirus Infection
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An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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The Epilepsy of Trisomy 9p
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TORCH Infections in the Newborn
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Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
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Angelman Syndrome: Clinical Profile
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Magnetic Resonance Imaging of the Brain in Congenital Rubella Virus and Cytomegalovirus Infections
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Congenital Brain Anomalies Associated with the Hypoplastic Left Heart Syndrome
Pediatrics 85:984-990, Glauser,T.A.,et al, 1990
Sulfite Oxidase Deficiency:Clinical, Neuroradiologic, and Biochemical Features in Two New Patients
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Natural History of the Fetal Alcohol Syndrome:A 10-Year Follow-Up of Eleven Patients
Lancet 2:85-91, Streissguth,A.P.,et al, 1985
Coffin-Siris Syndrome, Neuropathologic Findings
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Santavuori Disease:Diagnosis by Leukocyte Ultrastructure
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Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
Am J Med 68:122-140, Hall,J.G.,et al, 1980
Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
Ann Neurol 6:340-348, 1979, Soffer,D.,et al, 1979
Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
Arch Neurol 35:337, Brumback,R.A.,et al, 1978
EEG Recognition of Aicardi's Syndrome
Arch Neurol 34:563, Fariello,R.G.,et al, 1977
School Failure & Deafness After"Silent"Congenital Cytomegalovirus Infection
NEJM 295:468, Hanshaw,J.B.,et al, 1976
Herpes Simplex & the Human Nervous System
Milit Med 140:765, Finelli,P.F., 1975
Diagnostic Significance of Median Facial Anomalies for Holoprosencephaly
Pediatr 256, 1964 Aug., DeMeyer,W.,et al, 1964
Clinical Study of Nine Patients with ReNU Syndrome
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