Angelman Syndrome Revisited
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
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Prader-Willi and Angelman Syndromes
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The Epilepsy of Trisomy 9p
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
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Angelman Syndrome: Clinical Profile
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
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Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Neurological Manifestations in Xeroderma Pigmentosum
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Juvenile Metachromatic Leukodystrophy
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Familial Chorea & Myoclonus Epilepsy
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Genetic Counseling in Retinitis Pigmentosa
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Sturge-Weber Syndrome
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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012
Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009
Extension of the Clinical Spectrum of Danon Disease
Neurol 70:1358-1359, van der Kooi,A.J.,et al, 2008
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
Ann Neurol 62:347-355, Bonthius,D.J.,et al, 2007
Phenylketonuria
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The Tuberous Sclerosis Complex
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Mental Retardation
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
Neurol 52:1345-1352,1307, Van Domburg,P.H.M.F.,et al, 1999
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998
Chromosome 20 Ring:A Chromosomal Disorder Associated with a Particular Electroclinical Pattern
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The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
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Intelligence and the X Chromosome
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X-Linked Malformation of Neuronal Migration
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Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
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A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Advances in Molecular Analysis of Fragile X Syndrome
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Molecular Genetic Advances in Fragile X Syndrome
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Arginase Deficiency Presenting as Cerebral Palsy
Pediatrics 91:995-996, Scheuerle,A.E.,et al, 1993
Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
JAMA 270:2838-2842, Dobyns,W.B.,et al, 1993
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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Choroido-Cerebral Calcification Syndrome with Retardation
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Hypomelanosis of Ito
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