Found: 55
Select item for more details and to access through your institution.
Establishment and Characterization of a Novel Pleuropulmonary Blastoma Cell Line.
- Published in:
- Genes, Chromosomes & Cancer, 2024, v. 63, n. 10, p. 1, doi. 10.1002/gcc.23276
- By:
- Publication type:
- Article
Symmetrical central tegmental tract (CTT) hyperintense lesions on magnetic resonance imaging in children.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Clinicopathological study of a hilar nodule in the livers of long-term survivors with biliary atresia.
- Published in:
- Pathology International, 2001, v. 51, n. 1, p. 16, doi. 10.1046/j.1440-1827.2001.01161.x
- By:
- Publication type:
- Article
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 75, doi. 10.1159/000517977
- By:
- Publication type:
- Article
Acute hemicerebellitis in a pediatric patient: a case report of a serial MR spectroscopy study.
- Published in:
- Acta Radiologica, 2012, v. 53, n. 2, p. 223, doi. 10.1258/ar.2011.110339
- By:
- Publication type:
- Article
Covalent modifier NEDD8 is essential for SCF ubiquitin-ligase in fission yeast.
- Published in:
- EMBO Journal, 2000, v. 19, n. 13, p. 3475, doi. 10.1093/emboj/19.13.3475
- By:
- Publication type:
- Article
Indocyanine green lymphography for congenital lymphatic dysplasia with tuberous sclerosis complex: A case report.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Hypofractionated radiotherapy in children with diffuse intrinsic pontine glioma.
- Published in:
- Pediatrics International, 2020, v. 62, n. 1, p. 47, doi. 10.1111/ped.14070
- By:
- Publication type:
- Article
Neonatal case of classic maple syrup urine disease: Usefulness of <sup>1</sup>H-MRS in early diagnosis.
- Published in:
- Pediatrics International, 2014, v. 56, n. 1, p. 112, doi. 10.1111/ped.12211
- By:
- Publication type:
- Article
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 2, p. 97, doi. 10.1038/jhg.2014.103
- By:
- Publication type:
- Article
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 471, doi. 10.1038/jhg.2014.51
- By:
- Publication type:
- Article
MR imaging findings in some rare neurological complications of paediatric cancer.
- Published in:
- Insights into Imaging, 2018, v. 9, n. 3, p. 313, doi. 10.1007/s13244-018-0628-z
- By:
- Publication type:
- Article
Two siblings with acute necrotizing encephalopathy associated with variants of LARS1.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63803
- By:
- Publication type:
- Article
Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 322, doi. 10.1002/ajmg.a.37432
- By:
- Publication type:
- Article
Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2430, doi. 10.1002/ajmg.a.37193
- By:
- Publication type:
- Article
A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2223, doi. 10.1002/ajmg.a.37135
- By:
- Publication type:
- Article
Expression analysis of a 17p terminal deletion, including YWHAE, but not PAFAH1B1, associated with normal brain structure on MRI in a young girl.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2347, doi. 10.1002/ajmg.a.35542
- By:
- Publication type:
- Article
Epithelioid Leiomyosarcoma in a Non-Immunocompromised Infant: Additional Differential Diagnosis of Pediatric “Round Cell Tumors”.
- Published in:
- Modern Pathology, 2000, v. 13, n. 10, p. 1156, doi. 10.1038/modpathol.3880213
- By:
- Publication type:
- Article
Early magnetic resonance detection of cortical necrosis and acute network injury associated with neonatal and infantile cerebral infarction.
- Published in:
- Pediatric Radiology, 2014, v. 44, n. 5, p. 597, doi. 10.1007/s00247-013-2846-3
- By:
- Publication type:
- Article
Transient ischemic attack-like episodes without stroke-like lesions in MELAS.
- Published in:
- Pediatric Radiology, 2013, v. 43, n. 10, p. 1400, doi. 10.1007/s00247-013-2661-x
- By:
- Publication type:
- Article
Periventricular nodular heterotopia is related to severity of the hindbrain deformity in Chiari II malformation.
- Published in:
- Pediatric Radiology, 2012, v. 42, n. 10, p. 1212, doi. 10.1007/s00247-012-2431-1
- By:
- Publication type:
- Article
A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy.
- Published in:
- 2012
- By:
- Publication type:
- journal article
A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy.
- Published in:
- 2012
- By:
- Publication type:
- Report
Imaging and clinical characteristics of children with multiple foci of microsusceptibility changes in the brain on susceptibility-weighted MRI.
- Published in:
- Pediatric Radiology, 2010, v. 40, n. 10, p. 1657, doi. 10.1007/s00247-010-1665-z
- By:
- Publication type:
- Article
Biliary rhabdomyosarcoma.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Unilateral glomerulocystic kidney disease associated with tuberous sclerosis complex in a neonate.
- Published in:
- Pathology International, 2012, v. 62, n. 3, p. 209, doi. 10.1111/j.1440-1827.2011.02777.x
- By:
- Publication type:
- Article
Neonatal Brain Metabolite Concentrations: An <i>In Vivo</i> Magnetic Resonance Spectroscopy Study with a Clinical MR System at 3 Tesla.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0082746
- By:
- Publication type:
- Article
Analysis of Multiple B-Value Diffusion-Weighted Imaging in Pediatric Acute Encephalopathy.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0063869
- By:
- Publication type:
- Article
Treatment outcomes and late toxicities in patients with embryonal central nervous system tumors.
- Published in:
- Radiation Oncology, 2014, v. 9, n. 1, p. 201, doi. 10.1186/1748-717X-9-201
- By:
- Publication type:
- Article
Treatment outcomes and late toxicities in patients with embryonal central nervous system tumors.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Endocrine and Radiological Studies in Patients with Molecularly Confirmed CHARGE Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 920, doi. 10.1210/jc.2007-1419
- By:
- Publication type:
- Article
In vivo estimation of gamma-aminobutyric acid levels in the neonatal brain.
- Published in:
- NMR in Biomedicine, 2017, v. 30, n. 1, p. n/a, doi. 10.1002/nbm.3666
- By:
- Publication type:
- Article
Visualization of the airway in infants with MRI using pointwise encoding time reduction with radial acquisition (PETRA).
- Published in:
- 2017
- By:
- Publication type:
- journal article
Anatomic dependency of phase shifts in the cerebral venous system of neonates at susceptibility-weighted MRI.
- Published in:
- Journal of Magnetic Resonance Imaging, 2011, v. 34, n. 5, p. 1031, doi. 10.1002/jmri.22782
- By:
- Publication type:
- Article
Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 4, p. 145, doi. 10.1111/cga.12258
- By:
- Publication type:
- Article
Prophylactic cranial irradiation of acute lymphoblastic leukemia in childhood: Outcomes of late effects on pituitary function and growth in long-term survivors.
- Published in:
- International Journal of Cancer, 2001, v. 96, p. 117, doi. 10.1002/ijc.10348
- By:
- Publication type:
- Article
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 85, doi. 10.1007/s10545-009-9022-9
- By:
- Publication type:
- Article
Invited. Fukuyama congenital muscular dystrophy: A neuroradiologic review.
- Published in:
- Journal of Magnetic Resonance Imaging, 1998, v. 8, n. 2, p. 317, doi. 10.1002/jmri.1880080211
- By:
- Publication type:
- Article
Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0090-6
- By:
- Publication type:
- Article
Novel USP9X variants in two patients with X-linked intellectual disability.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0081-7
- By:
- Publication type:
- Article
A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0071-9
- By:
- Publication type:
- Article
Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 429, doi. 10.1002/mgg3.289
- By:
- Publication type:
- Article
¹H-MR Spectroscopy of the Early Developmental Brain, Neonatal Encephalopathies, and Neurometabolic Disorders.
- Published in:
- Magnetic Resonance in Medical Sciences, 2022, v. 21, n. 1, p. 9, doi. 10.2463/mrms.rev.2021-0055
- By:
- Publication type:
- Article
Influence of ADORA2A gene polymorphism on leukoencephalopathy risk in MTX-treated pediatric patients affected by hematological malignancies.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A prospective study of a long-term follow-up of an observation program for neuroblastoma detected by mass screening.
- Published in:
- Pediatric Blood & Cancer, 2010, v. 54, n. 4, p. 573, doi. 10.1002/pbc.22400
- By:
- Publication type:
- Article
Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation.
- Published in:
- Clinical Pediatric Endocrinology, 2015, v. 24, n. 1, p. 27, doi. 10.1297/cpe.24.27
- By:
- Publication type:
- Article
Recanalized umbilical vein as a conduit for mesenterico/porto-Rex bypass for patients with extrahepatic portal vein obstruction.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Pericardial hemangioma presenting fetal cardiac tamponade and postnatal bronchostenosis.
- Published in:
- Pediatric Surgery International, 2004, v. 20, n. 5, p. 376, doi. 10.1007/s00383-004-1202-y
- By:
- Publication type:
- Article
Apparent diffusion coefficient values predict outcomes of abusive head trauma.
- Published in:
- Acta Paediatrica, 2013, v. 102, n. 8, p. 805, doi. 10.1111/apa.12281
- By:
- Publication type:
- Article
Predictive value of early radiological findings in inflicted traumatic brain injury.
- Published in:
- Acta Paediatrica, 2012, v. 101, n. 6, p. 614, doi. 10.1111/j.1651-2227.2012.02635.x
- By:
- Publication type:
- Article