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Filter Applied: mental retardation (Click to remove)

The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006

New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992

Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991

Clinicopath Conf
Tuberous Sclerosis, Case 41-1986, NEJM 315:1013-1022986., , 1986

Nevoid Basal Cell Carcinoma Syndrome & Epilepsy
Ann Neurol 11:372-376, Murphy,M.J.,et al, 1982

Cerebrovascular Accidents in Patients with Congenital Heart Disease
Arch Neurol & Psychiat 77:483957., Tyler,H.R.,et al, 1957

Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010

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

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
eMedicine (December), Arnold,G.L., 2007

Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003

Bilirubin Metabolism and Kernicterus
Adv Pediatr 44:173-229, Gourley,G.R., 1997

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996

Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992

Long-Term Outcome of Neonatal Meningitis
Am J Dis Child 146:567-571, Franco,S.M.,et al, 1992

Cerebellar Symptoms as Presenting Manifest of Bilirubin Encephal in Children with Crigler-Najjar Type I Disease
Pediatrics 89:768-770, Labrune,P.H.,et al, 1992

Twinning and Neurologic Morbisity
Am J Dis Child 146:1110-1113, Scheller,J.M.&Nelson,K.B., 1992

Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992

A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992

Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991

Perinatal Loss and Neurological Abnormalities Among Children of the Atomic Bomb
JAMA 264:605-609, 6221990., Yamazaki,J.N.&Schull,W.J., 1990

The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
Arch Neurol 47:1239-1242, Bromberg,M.B.,et al, 1990

Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988

Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984

Neonatal Polycythemia Causing Multiple Cerebral Infarcts
Arch Neurol 37:109-110, Amit,M.,et al, 1980

Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
Am J Med 68:122-140, Hall,J.G.,et al, 1980

Unrecognized Adult Phenylketonuria
NEJM 289:395, 1973, 289:1040, 1973, 290:1084., Perry,T.,et al, 1974

Congenital Anomalies & Herpesvirus Infection
Am J Dis Child 126:364, Montogomery,J.R.,et al, 1973

Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972

Newborn Screening for Fragile X Syndrome
JAMA Neurol 71:355-359, Tassone, F., 2014

Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014

Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
Adams & Victors Principles of Neurology, Chp 37, pg 968, Ropper, A.H.,et al, 2014

Febrile Infection-Related Epilepsy Syndrome: A Study of 12 Patients
Seizure 22:553-559, Caraballo, R.H.,et al, 2013

Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
Lancet 380:1674-1682, Rauch, A.,et al, 2012

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012

Epilepsy in Children with Infantile Thiamine Deficiency
Neurol 73:828-833, Fattal-Valevski,A.,et al, 2009

Developmental Neurotoxivity of Industrial Chemicals
Lancet 368:2167-2178, Grandjean,P. &Landrigan,P.J., 2006

Oligophrenin 1 Mutations Frequently Cause X-Linked Mental Retardation with Cerebellar Hypoplasia
Neurol 65:1364-1369,1346, Zanni,G.,et al, 2005

Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
Eur J Radiol Extra 54: 5-9, Teksam,M.,et al., 2005

Mental Retardation
Neurol 61:156-157, Patterson,M.C. &Zoghbi,H.Y., 2003

Diffusion-Weighted Imaging of White Matter Abnormalities in Patients with Phenylketonuria
AJNR 22:1583-1586, Phillips,M.D.,et al, 2001

Gray Matter Heterotopia
Neurol 55:1603-1608, Barkovich,A.J. & Kuzniecky,R.I., 2000

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

Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998

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
Epilepsia 39:942-951, Canevini,M.P.,et al, 1998

Neuroimaging Findings in Late Infantile GM1 Gangliosidosis
AJNR 19:1628-1630, Chen,C-Y.,et al, 1998

Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
Neurol 49:1042-1047, Dobyns,W.B.,et al, 1997



Showing articles 0 to 50 of 109 Next >>