Spinal Muscular Atrophy
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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Prader-Willi and Angelman Syndromes
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A Clinical Study of Noonan Syndrome
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS) :Clinical, Radiological, Pathol & Genetic Observ
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Prospective Observations of 100 High-Risk Neonates by High-Field MRI of CNS:I. Intraventricular & Extracerebral Lesions
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Thalamic Hemorrhage with Intraventricular Hemorrhage in the Full-Term Newborn
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Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Neurodegeneration with Brain Iron Accumulation
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Molybdenum Cofactor Deficiency
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Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Sturge-Weber Syndrome
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Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
Neurol 78:1560-1567,1546, Wijburg, F.A.,et al, 2012
Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
JAMA 302:2111-2118, 2150, 2170, Messian,L.,et al, 2009
Glycogen-Storage Disease Type II
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Valproic Acid Hepatic Fatalities. III. U. S. Experience Since 1986
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The Relation of Transient Hypothyroxinemia in Preterm Infants to Neurologic Development at Two Years of Age
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Diagnostic Yield of the Neurologic Assessment of the Developmentally Delayed Child
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
The Infant or Young Child with Developmental Delay
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Advances in Molecular Analysis of Fragile X Syndrome
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Cystic Periventricular Leukomalacia and Type of Cerebral Palsy in Preterm Infants
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Molecular Genetic Advances in Fragile X Syndrome
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Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
J Pediatr 120:381-387, Weese-Mayer,D.E.,et al, 1992
Value of Cranial Untrasound and MRI in Predicting Neurodevelopmental Outcome in Preterm Infants
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Fucosidosis Revisited:A Review of 77 Patients
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Recognising & Preventing Duchenne Muscular Dystrophy
BMJ 287:1083-1084, Firth,M.A.,et al, 1983
Hazards of Oral Anticoagulants During Pregnancy
JAMA 243:1549-1551, Stevenson,R.E.,et al, 1980
Congenital Anomalies & Herpesvirus Infection
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Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Hydrocephalus
Adams & Victors Principles of Neurology, Chp 30, pg 622, Ropper, A.H.,et al, 2014
Early Child Development and Exposure to Antiepileptic Drugs Prenatally and Through Breastfeeding
JAMA Neurol 70:1367-1374, Veiby, G.,et al, 2013
Child Development Following In Utero Exposure: Levetiracetam vs Sodium Valproate
Neurol 76:383-389, Shallcross,R.,et al, 2011
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007
Management Issues for Women with Epilepsy,A Review of the Literature
Neurol 51:949-956, Zahn,C.A.,et al, 1998
Devel & Neurologic Status of Children after Heart Surgery with Hypothermic Circ Arrest or Low-Flow Cardiopul Bypass
NEJM 332:549-555, Bellinger,D.C.,et al, 1995
A 10-Year Experience with Postpump Chorea
Ann Neurol 34:820-826, Medlock,M.D.,et al, 1993
Mental Development of 2-Year-Old Children Exposed to Alcohol in Utero
J Pediatr 120:740-746, Autti-Ramo,I.,et al, 1992
Perinatal Loss and Neurological Abnormalities Among Children of the Atomic Bomb
JAMA 264:605-609, 6221990., Yamazaki,J.N.&Schull,W.J., 1990
Periventricular-Intraventricular Hemorrhage Sonographic Localization in Low Birth Weight Infants
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