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Showing articles 0 to 48 of 48

Filter Applied: mental retardation (Click to remove)

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

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

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

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

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
Brain 133:655-670, Leen,W.G., et al, 2010

Extension of the Clinical Spectrum of Danon Disease
Neurol 70:1358-1359, van der Kooi,A.J.,et al, 2008

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

A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002

New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

The Relation of Transient Hypothyroxinemia in Preterm Infants to Neurologic Development at Two Years of Age
NEJM 334:821-827, 8571996., Reuss,M.L.,et al, 1996

Startle Provoked Epileptic Seizures:Features in 19 Patients
JNNP 61:151-156, Manford,M.R.A.,et al, 1996

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

Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
Lancet 348:1068-1069, Wevrick,R.&Francke,U., 1996

Prenatal Magnesium Sulfate Expos/Risk for CP or MR Among Very Low-Birth-Weight Child Aged 3-5 Yrs
JAMA 276:1805-1810, 18431996., Schendel,D.E.,et al, 1996

A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
J Pediatr 129:611-614, Giangreco,C.A.,et al, 1996

Rapid Antibody Test for Fragile X Syndrome
Lancet 345:1147-1148, Willemsen,R.,et al, 1995

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

Advances in Molecular Analysis of Fragile X Syndrome
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 1994

Molecular Genetic Advances in Fragile X Syndrome
J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 1993

Fetal Alcohol Syndrome and Fetal Alcohol Effects
Comm of Substance Abuse & Comm on Children with Disabilitites, Pediatrics 91:1004-100693., , 1993

Detection of Full Fragile X Mutation
Lancet 339:271-272, Pergolizzi,R.G.,et al, 1992

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

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
NEJM 325:1673-1681, Rousseau,F.,et al, 1991

Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
NEJM 325:1720-1738, Sutherland,G.R.,et al, 1991

Neurologic Status and Intracranial Hemorrhage in Very-Low-Birth Weight Preterm Infants
Am J Dis Child 143:1186-1190, Ford,L.M.,et al, 1989

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

Neurologic Sequelae of Cardiac Surgery in Children
Am J Dis Child 141:309-312, Ferry,P.C., 1987

Cerebral Ventricular Dilation in Congenital Myotonic Dystrophy
J Pediatr 111:372-376, Regev,R.,et al, 1987

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

Hazards of Oral Anticoagulants During Pregnancy
JAMA 243:1549-1551, Stevenson,R.E.,et al, 1980

Cerebral Infarcts with Arterial Occlusion in Neonates
Ann Neurol 6:495-502, Barmada,M.A.,et al, 1979

Neurological Involvement in the Epidermal Naevus Syndrome
JNNP 41:466, McAuley,D.L.,et al, 1978

Diphenylhydantoin & Selected Congenital Malformations
NEJM 289:1049, 1973; 289:1089973., Monson,R.,et al, 1973

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

Mental Retradation Due to Germinal Matrix Infarction
Science 164:156, Towbin,A., 1969

Rubella, Clinical Manifestations & Management
Am J Dis Child 118:18-29, Cooper,L.Z.,et al, 1969

Neuro CPC of MGH
Myopathy, Severe, Generalized, Chronic, NEJM 258:388-3938., , 1958

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

An 11-year-old Boy with Language Disorder and Epilepsy
Neurol 86:e48-e53, Dong, L. & Zhou, X., 2016

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

A Follow-up Study of Intractable Seizures in Childhood
Ann Neurol 28:699-705, Huttenlocher,P.R.&Hapke,R.J., 1990

The Thyroid Gland:Its Relationship to Neurology
In Handbook of Clin Neurol, Vinken & Bruyn (Ed) , North Holland Publ Co, Amsterdam 27:255, Greene,R., 1976



Showing articles 0 to 48 of 48