Found: 28
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Murine MPS I: insights into the pathogenesis of Hurler syndrome.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 349, doi. 10.1111/j.1399-0004.1998.tb02745.x
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- Publication type:
- Article
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 70, doi. 10.1186/1750-1172-7-70
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- Publication type:
- Article
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
- Published in:
- 2016
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- Publication type:
- journal article
Hemispheric Surgery in Children with Refractory Epilepsy: Seizure Outcome, Complications, and Adaptive Function.
- Published in:
- Epilepsia (Series 4), 2007, v. 48, n. 1, p. 133, doi. 10.1111/j.1528-1167.2006.00909.x
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- Publication type:
- Article
Are CUL3 variants an underreported cause of congenital heart disease?
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2903, doi. 10.1002/ajmg.a.63387
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- Publication type:
- Article
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2‐related distal arthrogryposis type 5.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 546, doi. 10.1002/ajmg.a.63019
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- Publication type:
- Article
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 926, doi. 10.1002/ajmg.a.62578
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- Publication type:
- Article
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2829, doi. 10.1002/ajmg.a.62356
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- Publication type:
- Article
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3087, doi. 10.1002/ajmg.a.38400
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- Publication type:
- Article
Histopathology of the filum terminale in children with and without tethered cord syndrome with attention to the elastic tissue within the filum.
- Published in:
- Child's Nervous System, 2016, v. 32, n. 9, p. 1683, doi. 10.1007/s00381-016-3123-1
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- Publication type:
- Article
The role of resection alone in select children with intracranial ependymoma: the Canadian Pediatric Brain Tumour Consortium experience.
- Published in:
- Child's Nervous System, 2015, v. 31, n. 1, p. 57, doi. 10.1007/s00381-014-2575-4
- By:
- Publication type:
- Article
Spontaneous regression of septum pellucidum/forniceal pilocytic astrocytomas-possible role of Cannabis inhalation.
- Published in:
- 2011
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- Publication type:
- Report
Clinical, radiologic and pathologic features and outcome following surgery for cervicomedullary gliomas in children.
- Published in:
- Child's Nervous System, 2009, v. 25, n. 11, p. 1401, doi. 10.1007/s00381-009-0956-x
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- Publication type:
- Article
Bilateral choroid plexus hyperplasia: a case report and management strategies.
- Published in:
- Child's Nervous System, 2009, v. 25, n. 12, p. 1617, doi. 10.1007/s00381-009-0923-6
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- Publication type:
- Article
Tuberous sclerosis complex: a review of the management of epilepsy with emphasis on surgical aspects.
- Published in:
- Child's Nervous System, 2006, v. 22, n. 8, p. 896, doi. 10.1007/s00381-006-0130-7
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- Publication type:
- Article
Spontaneous regression of cerebellar astrocytoma after subtotal resection.
- Published in:
- Child's Nervous System, 2006, v. 22, n. 6, p. 572, doi. 10.1007/s00381-006-0058-y
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- Publication type:
- Article
Diagnosis and management of patients with mitochondrial disease.
- Published in:
- British Columbia Medical Journal, 2011, v. 53, n. 4, p. 177
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- Publication type:
- Article
Intramedullary Spinal Teratoma and Diastematomyelia.
- Published in:
- Pediatric Neurosurgery, 1999, v. 30, n. 3, p. 140, doi. 10.1159/000028782
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- Publication type:
- Article
Low‐grade diffusely infiltrative tumour (LGDIT), SMARCB1‐mutant: A clinical and histopathological distinct entity showing epigenetic similarity with ATRT‐MYC.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 4, p. 1, doi. 10.1111/nan.12797
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- Publication type:
- Article
Intracystic Bleomycin Therapy for Craniopharyngioma in Children.
- Published in:
- Cancer (0008543X), 2007, v. 109, n. 10, p. 2124, doi. 10.1002/cncr.22633
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- Publication type:
- Article
Arrested preoligodendrocyte maturation contributes to myelination failure in premature infants.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 1, p. 93, doi. 10.1002/ana.22627
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- Publication type:
- Article
Expression profile and mitochondrial colocalization of Tdp1 in peripheral human tissues.
- Published in:
- Journal of Molecular Histology, 2013, v. 44, n. 4, p. 481, doi. 10.1007/s10735-013-9496-5
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- Publication type:
- Article
Expression profile of NSDHL in human peripheral tissues.
- Published in:
- Journal of Molecular Histology, 2012, v. 43, n. 1, p. 95, doi. 10.1007/s10735-011-9375-x
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- Publication type:
- Article
Gyriform Differentiation in Medulloblastoma – A Radiological Predictor of Histology.
- Published in:
- Pediatric Neurosurgery, 2007, v. 43, n. 2, p. 142, doi. 10.1159/000098390
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- Publication type:
- Article
Infantile cardioencephalopathy due to a COX15 gene defect: Report and review.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 840, doi. 10.1002/ajmg.a.33881
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- Publication type:
- Article
EZH2 expression is a prognostic factor in childhood intracranial ependymoma: A Canadian Pediatric Brain Tumor Consortium study.
- Published in:
- Cancer (0008543X), 2015, v. 121, n. 9, p. 1499, doi. 10.1002/cncr.29198
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- Publication type:
- Article
Successful treatment of a child with a primary intracranial rhabdomyosarcoma with chemotherapy and radiation therapy.
- Published in:
- Journal of Neuro-Oncology, 2008, v. 86, n. 1, p. 79, doi. 10.1007/s11060-007-9435-y
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- Publication type:
- Article
Magnetic Resonance Imaging in the Encephalopathic Term Newborn.
- Published in:
- Current Pediatric Reviews, 2014, v. 10, n. 1, p. 28
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- Publication type:
- Article