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Periventricular pseudocysts of noninfectious origin: Prenatal associated findings and prognostic factors.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Agenesis of the septum pellucidum: Prenatal diagnosis and outcome.
- Published in:
- 2020
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- Publication type:
- journal article
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
- Published in:
- 2018
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- Publication type:
- journal article
Fetal Brain Development: Regulating Processes and Related Malformations.
- Published in:
- Life (2075-1729), 2022, v. 12, n. 6, p. 809, doi. 10.3390/life12060809
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- Publication type:
- Article
White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 7, p. 2155, doi. 10.1007/s11011-021-00742-3
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- Publication type:
- Article
Metabolic stroke in a patient with bi-allelic OPA1 mutations.
- Published in:
- Metabolic Brain Disease, 2019, v. 34, n. 4, p. 1043, doi. 10.1007/s11011-019-00415-2
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- Publication type:
- Article
Rare copy number variants are an important cause of epileptic encephalopathies.
- Published in:
- Annals of Neurology, 2011, v. 70, n. 6, p. 974, doi. 10.1002/ana.22645
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- Publication type:
- Article
Agenesis of the corpus callosum. An autopsy study in fetuses.
- Published in:
- 2016
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- Publication type:
- journal article
Sulthiame in childhood epilepsy.
- Published in:
- Pediatrics International, 2004, v. 46, n. 5, p. 521, doi. 10.1111/j.1442-200x.2004.01954.x
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- Publication type:
- Article
The use of fetal neurosonography and brain MRI in cases of cytomegalovirus infection during pregnancy: A retrospective analysis with outcome correlation.
- Published in:
- Prenatal Diagnosis, 2017, v. 37, n. 13, p. 1335, doi. 10.1002/pd.5180
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- Publication type:
- Article
The use of fetal neurosonography and brain MRI in cases of cytomegalovirus infection during pregnancy: A retrospective analysis with outcome correlation.
- Published in:
- 2017
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- Publication type:
- journal article
Does normal fetal brain ultrasound predict normal neurodevelopmental outcome in congenital cytomegalovirus infection?
- Published in:
- Prenatal Diagnosis, 2011, v. 31, n. 4, p. 360, doi. 10.1002/pd.2694
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- Publication type:
- Article
The fetal cerebellum. Pitfalls in diagnosis and management.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 4, p. 372, doi. 10.1002/pd.2196
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- Publication type:
- Article
Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA.
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- Prenatal Diagnosis, 2003, v. 23, n. 1, p. 31, doi. 10.1002/pd.516
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- Publication type:
- Article
The subarachnoid space: normal fetal development as demonstrated by transvaginal ultrasound.
- Published in:
- 2000
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- Publication type:
- journal article
A prospective, multicenter, open-label assessment of atomoxetine in non-North American children and adolescents with ADHD.
- Published in:
- European Child & Adolescent Psychiatry, 2004, v. 13, n. 4, p. 249, doi. 10.1007/s00787-004-0401-3
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- Publication type:
- Article
A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 287, doi. 10.1038/ejhg.2010.213
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- Publication type:
- Article
Assessment of fetal intracranial pathologies first demonstrated late in pregnancy: cell proliferation disorders.
- Published in:
- Reproductive Biology & Endocrinology, 2003, v. 1, p. 110, doi. 10.1186/1477-7827-1-110
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- Publication type:
- Article
Diagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 8, p. 1066, doi. 10.1002/pd.6359
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- Publication type:
- Article
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 4, p. 575, doi. 10.1007/s00401-012-1007-3
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- Publication type:
- Article
Unique Imaging Features Enabling the Prenatal Diagnosis of Developmental Venous Anomalies: A Persistent Echogenic Brain Lesion Drained by a Collecting Vein in Contrast with Normal Brain Parenchyma on MRI.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Familial Brain Periventricular Pseudocysts.
- Published in:
- 2017
- By:
- Publication type:
- journal article
The 'Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis.
- Published in:
- 2016
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- Publication type:
- journal article
Imaging of Fetal Cytomegalovirus Infection.
- Published in:
- Fetal Diagnosis & Therapy, 2011, v. 29, n. 2, p. 117, doi. 10.1159/000321346
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- Publication type:
- Article
Imaging of fetal cytomegalovirus infection.
- Published in:
- 2011
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- Publication type:
- journal article
Hereditary orotic aciduria identified by newborn screening.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1135267
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- Publication type:
- Article
Small size, big problems: insights and difficulties in prenatal diagnosis of fetal microcephaly.
- Published in:
- Frontiers in Neuroscience, 2024, p. 01, doi. 10.3389/fnins.2024.1347506
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- Publication type:
- Article
Developmental coordination disorder in children with attention-deficit–hyperactivity disorder and physical therapy intervention.
- Published in:
- Developmental Medicine & Child Neurology, 2007, v. 49, n. 12, p. 920, doi. 10.1111/j.1469-8749.2007.00920.x
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- Publication type:
- Article
Effect of early corticosteroid therapy for Landau-Kleffner syndrome.
- Published in:
- 1991
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- Publication type:
- journal article
Gastric Lymphoma Versus Pseudolymphoma: The Importance of Immunological Differentiation.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 1985, v. 80, n. 10, p. 763
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- Publication type:
- Article
Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome.
- Published in:
- Developmental Medicine & Child Neurology, 2024, v. 66, n. 7, p. 948, doi. 10.1111/dmcn.15845
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- Publication type:
- Article
Expanding the natural history of CASK‐related disorders to the prenatal period.
- Published in:
- Developmental Medicine & Child Neurology, 2023, v. 65, n. 4, p. 544, doi. 10.1111/dmcn.15419
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- Publication type:
- Article
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.
- Published in:
- Developmental Medicine & Child Neurology, 2010, v. 52, n. 5, p. 475, doi. 10.1111/j.1469-8749.2009.03471.x
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- Publication type:
- Article
The Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Gene VRK1 Regulates Neuronal Migration through an Amyloid-β Precursor Protein-Dependent Mechanism.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 3, p. 936, doi. 10.1523/JNEUROSCI.1998-14.2015
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- Publication type:
- Article
Adverse reactions of Topiramate and Lamotrigine in children.
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- Pharmacoepidemiology & Drug Safety, 2005, v. 14, n. 3, p. 187, doi. 10.1002/pds.1041
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- Publication type:
- Article
Refractory epilepsy associated with ventriculoperitoneal shunt over-drainage: case report.
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- Child's Nervous System, 2019, v. 35, n. 12, p. 2411, doi. 10.1007/s00381-019-04367-x
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- Publication type:
- Article
Successful pregnancy in a patient with mitochondrial cardiomyopathy due to ACAD9 deficiency.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 9, doi. 10.1002/jmd2.12157
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- Publication type:
- Article
Congential Cytomegalovirus Infection Presenting as an Apparent Neurodegenerative Disorder.
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- Clinical Pediatrics, 2002, v. 41, n. 7, p. 519, doi. 10.1177/000992280204100710
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- Publication type:
- Article
Reversal of anorexia in a child with partial ornithine transcarbamylase deficiency by...
- Published in:
- Clinical Pediatrics, 1995, v. 34, n. 3, p. 163, doi. 10.1177/000992289503400310
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- Publication type:
- Article
A prospective evaluation of pediatric patients with syncope.
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- Clinical Pediatrics, 1994, v. 33, n. 2, p. 66, doi. 10.1177/000992289403300201
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- Publication type:
- Article
Low Erythrocyte Zinc Content in Acquired Aphasia With Convulsive Disorder (Landau-Kleffner Syndrome).
- Published in:
- Journal of Child Neurology, 1987, v. 2, n. 1, p. 28, doi. 10.1177/088307388700200105
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- Publication type:
- Article
Building Bridges Between the Clinic and the Laboratory: A Meeting Review – Brain Malformations: A Roadmap for Future Research.
- Published in:
- Frontiers in Cellular Neuroscience, 2019, p. 1, doi. 10.3389/fncel.2019.00434
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- Publication type:
- Article
Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.
- Published in:
- 2018
- By:
- Publication type:
- letter
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Autoimmune Epilepsy: Some Epilepsy Patients Harbor Autoantibodies to Glutamate Receptors and dsDNA on both Sides of the Blood-brain Barrier, which may Kill Neurons and Decrease in Brain Fluids after Hemispherotomy.
- Published in:
- Clinical & Developmental Immunology, 2004, v. 11, n. 3/4, p. 241, doi. 10.1080/17402520400001736
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- Publication type:
- Article
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 232, doi. 10.1002/jimd.12580
- By:
- Publication type:
- Article
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 606, doi. 10.1002/jimd.12331
- By:
- Publication type:
- Article
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 211, doi. 10.1007/s10545-015-9899-4
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- Publication type:
- Article
Malformations of Cortical Development: From Postnatal to Fetal Imaging.
- Published in:
- Canadian Journal of Neurological Sciences, 2016, v. 43, n. 5, p. 611, doi. 10.1017/cjn.2016.271
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- Publication type:
- Article