Found: 23
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Confirmation of the Pathogenetic Role of the CCDC88C Gene in Early‐Onset Pure Spastic Paraplegia.
- Published in:
- Movement Disorders, 2023, v. 38, n. 8, p. 1561, doi. 10.1002/mds.29459
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- Publication type:
- Article
Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants.
- Published in:
- Epilepsia Open, 2024, v. 9, n. 1, p. 417, doi. 10.1002/epi4.12843
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- Publication type:
- Article
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 7, p. 919, doi. 10.1038/ejhg.2008.271
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- Publication type:
- Article
Deregulation of ion channel and transporter encoding genes inpediatric gliomas.
- Published in:
- Frontiers in Oncology, 2012, v. 2, p. 1, doi. 10.3389/fonc.2012.00053
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- Publication type:
- Article
XLP1 inhibitory effect by 2 B4 does not affect DNAM-1 and NKG2 D activating pathways in NK cells.
- Published in:
- European Journal of Immunology, 2014, v. 44, n. 5, p. 1526, doi. 10.1002/eji.201344312
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- Publication type:
- Article
Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.
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- Cellular & Molecular Life Sciences, 2012, v. 69, n. 1, p. 29, doi. 10.1007/s00018-011-0835-y
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- Publication type:
- Article
Cytophagic histiocytic panniculitis, hemophagocytic lymphohistiocytosis and undetermined autoimmune disorder: reconciling the puzzle.
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- Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 1, doi. 10.1186/1824-7288-40-17
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- Publication type:
- Article
Tumour suppressor gene TP53 mutations in atypical vascular lesions of breast skin following radiotherapy.
- Published in:
- Histopathology, 2011, v. 58, n. 3, p. 455, doi. 10.1111/j.1365-2559.2011.03770.x
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- Publication type:
- Article
A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis.
- Published in:
- 2010
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- Publication type:
- Letter
Pediatric rhabdoid meningioma: a morphological, immunohistochemical, ultrastructural and molecular case study.
- Published in:
- Neuropathology, 2011, v. 31, n. 1, p. 59, doi. 10.1111/j.1440-1789.2010.01113.x
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- Publication type:
- Article
Embryonal tumor with abundant neuropil and true rosettes: Morphological, immunohistochemical, ultrastructural and molecular study of a case showing features of medulloepithelioma and areas of mesenchymal and epithelial differentiation.
- Published in:
- Neuropathology, 2010, v. 30, n. 1, p. 84, doi. 10.1111/j.1440-1789.2009.01040.x
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- Publication type:
- Article
Variations of the <i>UNC13D</i> Gene in Patients with Autoimmune Lymphoproliferative Syndrome.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068045
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- Publication type:
- Article
Familial Hemophagocytic Lymphohistiocytosis May Present during Adulthood: Clinical and Genetic Features of a Small Series.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0044649
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- Publication type:
- Article
Clinical and molecular characterization of patients with YWHAG‐related epilepsy.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 5, p. 1439, doi. 10.1111/epi.17939
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- Publication type:
- Article
Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.
- Published in:
- Epilepsia (Series 4), 2020, v. 60, p. S2, doi. 10.1111/epi.16054
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- Publication type:
- Article
Pediatric brain tumors: mutations of two dioxygenases (hABH2 and hABH3) that directly repair alkylation damage.
- Published in:
- Journal of Neuro-Oncology, 2009, v. 94, n. 2, p. 195, doi. 10.1007/s11060-009-9837-0
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- Publication type:
- Article
Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.
- Published in:
- Epilepsia (Series 4), 2019, v. 60, n. 3, p. S2, doi. 10.1111/epi.16054
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- Publication type:
- Article
Diagnostic implications of genetic copy number variation in epilepsy plus.
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- Epilepsia (Series 4), 2019, v. 60, n. 4, p. 689, doi. 10.1111/epi.14683
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- Publication type:
- Article
Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.
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- Frontiers in Immunology, 2014, v. 5, p. 1, doi. 10.3389/fimmu.2014.00167
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- Publication type:
- Article
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3755, doi. 10.1093/hmg/ddz194
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- Publication type:
- Article
STOP Pain Project—Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways.
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- Pharmaceutics, 2022, v. 14, n. 3, p. 619, doi. 10.3390/pharmaceutics14030619
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- Publication type:
- Article
Altered mRNA expression of PAX5 is a common event in acute lymphoblastic leukaemia.
- Published in:
- 2009
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- Publication type:
- Letter
Opioid response in paediatric cancer patients and the Val158Met polymorphism of the human catechol-O-methyltransferase (COMT) gene: an Italian study on 87 cancer children and a systematic review.
- Published in:
- 2019
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- Publication type:
- journal article