Found: 42
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Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.
- Published in:
- Neurogenetics, 2016, v. 17, n. 4, p. 251, doi. 10.1007/s10048-016-0491-3
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- Publication type:
- Article
Infant Botulism, Israel, 2007-2021.
- Published in:
- Emerging Infectious Diseases, 2023, v. 29, n. 2, p. 235, doi. 10.3201/eid2902.220991
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- Publication type:
- Article
Effect of Three Days Starvation on the Phagocytic Activity of Rat Peritoneal Macrophages.
- Published in:
- Acta Haematologica, 1998, v. 100, n. 1, p. 17, doi. 10.1159/000040856
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- Publication type:
- Article
A Simple Method for Evaluation of Latex Phagocytosis by Rat Peritoneal Macrophages.
- Published in:
- Acta Haematologica, 1997, v. 98, n. 1, p. 56, doi. 10.1159/000203565
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- Publication type:
- Article
Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.
- Published in:
- 2017
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- Publication type:
- journal article
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K<sup>+</sup> channel properties.
- Published in:
- 2017
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- Publication type:
- journal article
A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5338, doi. 10.3390/ijms22105338
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- Publication type:
- Article
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0343-x
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- Publication type:
- Article
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0315-1
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- Publication type:
- Article
Kyphoscoliosis peptidase ( KY) mutation causes a novel congenital myopathy with core targetoid defects.
- Published in:
- 2016
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- Publication type:
- Letter
Posterior Fossa Tumors Presenting As Meningoencephalitis.
- Published in:
- Clinical Pediatrics, 1993, v. 32, n. 9, p. 552, doi. 10.1177/000992289303200909
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- Publication type:
- Article
A Rare Presentation of Postpump Hemichorea.
- Published in:
- Israel Medical Association Journal, 2019, v. 21, n. 4, p. 286
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- Publication type:
- Article
Dysferlinopathy and Very-Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency Segregating in the Same Family.
- Published in:
- Israel Medical Association Journal, 2011, v. 13, n. 10, p. 632
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- Publication type:
- Article
Rheumatic fever in a developed country – is it still relevant? A retrospective, 25 years follow-up.
- Published in:
- Pediatric Rheumatology, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s12969-022-00678-7
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- Publication type:
- Article
Rheumatic fever in a developed country – is it still relevant? A retrospective, 25 years follow-up.
- Published in:
- Pediatric Rheumatology, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s12969-022-00678-7
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- Publication type:
- Article
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 11, p. 2165, doi. 10.1007/s00415-014-7457-x
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- Publication type:
- Article
Variable Myopathic Presentation in a Single Family with Novel Skeletal <i>RYR1</i> Mutation.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069296
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- Publication type:
- Article
Raynaud's Phenomenon as a Manifestation of Parvovirus B19 Infection: Case Reports and Review of Parvovirus B19 Rheumatic and Vasculitic Syndromes.
- Published in:
- Clinical Infectious Diseases, 2000, v. 30, n. 3, p. 500, doi. 10.1086/313712
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- Publication type:
- Article
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
- Published in:
- Human Genetics, 2015, v. 134, n. 6, p. 577, doi. 10.1007/s00439-015-1541-x
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- Publication type:
- Article
X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1959, doi. 10.1002/ajmg.a.34121
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- Publication type:
- Article
Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome?
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1060, doi. 10.1002/ajmg.a.33978
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- Publication type:
- Article
Delayed parkinsonism associated with hypotension in a child undergoing open-heart surgery.
- Published in:
- 1993
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- Publication type:
- journal article
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12671-y
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- Publication type:
- Article
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 6, p. 2131, doi. 10.1007/s11011-017-0109-y
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- Publication type:
- Article
Cytokine Production by Mononuclear Cells from Patients with Familial Infantile Bilateral Striatal Necrosis.
- Published in:
- Neuroimmunomodulation, 2018, v. 24, n. 4/5, p. 276, doi. 10.1159/000486861
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- Publication type:
- Article
Congenital intractable diarrhea of infancy in Iraqi Jews.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 2, p. 98, doi. 10.1111/j.1399-0004.1997.tb02428.x
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- Publication type:
- Article
Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3109, doi. 10.1002/ajmg.a.38414
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- Publication type:
- Article
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
- Published in:
- Annals of Neurology, 2006, v. 60, n. 2, p. 214
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- Publication type:
- Article
Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 5, p. 596
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- Publication type:
- Article
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 7, p. 994, doi. 10.1111/epi.12668
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- Publication type:
- Article
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 7, p. 1262, doi. 10.1111/epi.12203
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- Publication type:
- Article
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
- Published in:
- Epilepsia (Series 4), 2009, v. 50, n. 4, p. 953, doi. 10.1111/j.1528-1167.2009.02023.x
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- Publication type:
- Article
Acute Cerebellitis in Children.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 8, p. 991, doi. 10.1177/0883073816634860
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- Publication type:
- Article
A Possible Genotype-Phenotype Correlation in Ashkenazi-Jewish Individuals With Aicardi-Goutières Syndrome Associated With SAMHD1 Mutation.
- Published in:
- 2015
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- Publication type:
- Case Study
Benign Neonatal Sleep Myoclonus: An Autosomal Dominant Form Not Allelic to KCNQ2 or KCNQ3.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 10, p. 1260, doi. 10.1177/0883073811433460
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- Publication type:
- Article
Vertebral Artery Dissection and Posterior Stroke in a Child.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 5, p. 568, doi. 10.1177/0883073807313038
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- Publication type:
- Article
Acute Infantile Bilateral Striatal Necrosis: Single-Photon Emission Computed Tomography (SPECT) Imaging and Review.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 10, p. 1222, doi. 10.1177/0883073807304194
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- Publication type:
- Article
Benign Hereditary Chorea: Clinical, Neuroimaging, and Genetic Findings.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 10, p. 1231, doi. 10.1177/0883073807306261
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- Publication type:
- Article
Neurological Manifestations of Folate Transport Defect: Case Report and Review of the Literature.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 6, p. 783, doi. 10.1177/0883073807304004
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- Publication type:
- Article
Treatment of Anticonvulsant Hypersensitivity Syndrome With Intravenous Immunoglobulins and Corticosteroids.
- Published in:
- Journal of Child Neurology, 2006, v. 21, n. 5, p. 380, doi. 10.1177/08830738060210051301
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- Publication type:
- Article
Familial Cognitive Impairment With Ataxia With Oculomotor Apraxia.
- Published in:
- Journal of Child Neurology, 2005, v. 20, n. 6, p. 523, doi. 10.1177/08830738050200061001
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- Publication type:
- Article
Clinical Experience With Open-Label Topiramate Use in Infants Younger Than 2 Years of Age.
- Published in:
- Journal of Child Neurology, 2003, v. 18, n. 4, p. 258, doi. 10.1177/08830738030180040901
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- Publication type:
- Article