Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992
Value of Cranial Untrasound and MRI in Predicting Neurodevelopmental Outcome in Preterm Infants
Pediatrics 90:196-199, vandeBor,M.,et al, 1992
Population Screening for Fragile X
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Outlook for the Child with a Cephalocele
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
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Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
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Destructive Brain Lesions of Presumed Fetal Onset:Antepartum Causes of Cerebral Palsy
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Cesarean Section Before Onset of Labor & Motor Function in Infants with Meningomyelocele Diag Antenatally
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Sensitivity of Ultrasound in Detecting Spina Bifida
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Predictive Testing for Wilson's Disease Using Tightly Linked and Flanking DNA Markers
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Fucosidosis Revisited:A Review of 77 Patients
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990
Presymptomatic and Prenatal Diagnosis in Myotonic Dystrophy by Genetic Linkage Studies
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Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
Lancet 336:271-273, Melki,J.,et al, 1990
Periventricular-Intraventricular Hemorrhage Sonographic Localization in Low Birth Weight Infants
Pediatrics 85:1027-1032, Krishamoorthy,K.,et al, 1990
Prenatal Prediction of Risk of the Fetal Hydantoin Syndrome
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Predictive Testing for Huntington's Disease with Linked DNA Markers
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Uptake of Presymptomatic Predictive Testing for Huntington's Disease
Lancet 2:603-605, Craufurd,D.,et al, 1989
Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
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The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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Predictive Testing for Huntington's Disease with Use of a Linked DNA Marker
NEJM 318:535-542, Meissen,G.J.,et al, 1988
Prenatal Testing for Duchenne & Becker Muscular Dystrophy
Lancet 1:262-266, Cole,C.G.,et al, 1988
Prediction of Cerebral Palsy in Very Low Birthweight Infants:Prospective Ultrasound Study
Lancet 2:593-596, Graham,M.,et al, 1987
Prenatal Diagnosis & Detection of Carriers with DNA Probes in Duchenne's Muscular Dystrophy
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First-Trimester Prenatal Diagnosis for Huntington's Disease with DNA Probes
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Effective Strategy for Prenatal Prediction of Duchenne & Becker Muscular Dystrophy
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Acid Maltase Deficiency
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Preventive Screening for Fragile X Syndrome
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Predictive Value of Cranial Ultrasound in the Newborn Baby:A Reappraisal
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Prenatal Diagnosis of Congenital Toxoplasmosis
Lancet 1:500-504, Desmonts,G.,et al, 1985
Prenatal Diagnosis of Cockayne's Syndrome
Lancet 1:486-488, Lehmann,A.R.,et al, 1985
Neurological Findings in Patients with the Fragile-X Syndrome
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Prenatal Diagnosis & Carrier Detection of Duchenne Muscular Dystrophy with Closely Linked RFLPs
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Adrenoleukodystrophy:Survey of 303 Cases:Biochemistry, Diagnosis, & Therapy
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Prenatal Diagnosis of Neuronal Ceroid Lipofuscinosis
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The Cerebrohepatorenal (Zellweger) Syndrome
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Prenatal Diagnosis of Fragile X Chromosome
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Perinatal Neuropathy as an Early Manifestation of Krabbe's Disease
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Prenatal Genetic Diagnosis in 3000 Amniocenteses
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CT Scans in Menkes Disease
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Prenatal Diagnosis of Duchenne's Muscular Dystrophy
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Infantile Metachromatic Leukodystrophy
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Preclinical Detection of Dystrophia Myotonica
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Prenatal Genetic Diagnosis
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Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
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Vitamin B12 Deficiency:NICE Guideline Summary
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Diagnosis and Management of Cerebral Venous Thrombosis:A Scientific Statement From the American Heart Association
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Cauda Equina Syndrome in the Third Trimester
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Subarachnoid Hemmorhage During Pregnancy and Puerperium:A Population-Based Study
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