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Showing articles 0 to 36 of 36

Filter Applied: microcephaly (Click to remove)

Coffin-Siris Syndrome, Neuropathologic Findings
Arch Neurol 42:350-353, DeBassio,W.A.,et al, 1985

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

Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018

FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018

Zika Virus Associated with Microcephaly
NEJM 374: DOI:10.1056/NEJMoa1600651, Mlakar, J.,et al, 2016

The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016

Neonatal Abstinence Syndrome
NEJM 375:2468-2479, McQueen, K. & Murphy-Oikonen, J., 2016

Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015

Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014

The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
Adams & Victors Principles of Neurology Chp 40, pg 1156, Ropper, A.H.,et al, 2014

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

Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009

The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009

Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009

Leukotriene C4-synthesis Deficiency:A New Inborn Error of Metabolism Linked to a Fatal Developmental Syndrome
Lancet 352:1514-1517,1487, Mayatepek,E.&Flock.B., 1998

The Epilepsy of Trisomy 9p
Neurol 47:821-824, Stern,J.M., 1996

Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
Ann Neurol 31:64-68, Perlman,J.M.&Argyle,C., 1992

Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992

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

Congenital Inflammatory Myopathy
Neurol 40:1111-1114, Shevell,M.,et al, 1990

Congenital Brain Anomalies Associated with the Hypoplastic Left Heart Syndrome
Pediatrics 85:984-990, Glauser,T.A.,et al, 1990

Sulfite Oxidase Deficiency:Clinical, Neuroradiologic, and Biochemical Features in Two New Patients
Neurol 39:252-257, Brown,G.K.,et al, 1989

Congenital AIDS:Review of Neurological Problems
Child's Nerv Syst 5:9-11, Curles,R.G., 1989

Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986

Natural History of the Fetal Alcohol Syndrome:A 10-Year Follow-Up of Eleven Patients
Lancet 2:85-91, Streissguth,A.P.,et al, 1985

Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
Ann Neurol 18:560-566, Belman,A.L.,et al, 1985

Human Cytomegalovirus Infection & Disorders of the Nervous System
Jr. , Arch Neurol 41:310-320984., Bale,J.F., 1984

A Progressive Syndrome of Autism, Dementia, Ataxia, & Loss of Purposeful Hand Use in Girls:Rett's Syndrome
Ann Neurol 14:471-491, Hagberg,B., 1983

Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
Ann Neurol 6:340-348, 1979, Soffer,D.,et al, 1979

The Lissencephaly, (Agyria) Syndrome in Siblings
Arch Neurol 35:608-611, Garcia,C.A.,et al, 1978

Adverse Effects on Offspring of Maternal Alcohol Abuse During Pregnancy
NEJM 297:528, Ouellette,E.M.,et al, 1977

EEG Recognition of Aicardi's Syndrome
Arch Neurol 34:563, Fariello,R.G.,et al, 1977

Herpes Simplex & the Human Nervous System
Milit Med 140:765, Finelli,P.F., 1975

Diagnostic Significance of Median Facial Anomalies for Holoprosencephaly
Pediatr 256, 1964 Aug., DeMeyer,W.,et al, 1964

Neuro CPC of MGH
Congenital Toxoplasmosis Involving CNS, NEJM 269:369-3741963., , 1963



Showing articles 0 to 36 of 36