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Switching of biological therapy to dupilumab in comorbid patients with severe asthma and CRSwNP.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2024, v. 281, n. 6, p. 3017, doi. 10.1007/s00405-024-08461-y
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- Publication type:
- Article
Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy.
- Published in:
- Translational Psychiatry, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41398-024-02753-x
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- Publication type:
- Article
Prospective Evaluation of Ghrelin and Des-Acyl Ghrelin Plasma Levels in Children with Newly Diagnosed Epilepsy: Evidence for Reduced Ghrelin-to-Des-Acyl Ghrelin Ratio in Generalized Epilepsies.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 4, p. 527, doi. 10.3390/jpm12040527
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- Article
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
- Published in:
- 2022
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- Publication type:
- journal article
Circulating tumor cells and palbociclib treatment in patients with ER-positive, HER2-negative advanced breast cancer: results from a translational sub-study of the TREnd trial.
- Published in:
- 2021
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- Publication type:
- journal article
Pre-Clinical Experience With the VITOM 3D and the ARTip Cruise System for Micro-Laryngeal Surgery.
- Published in:
- 2021
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- Publication type:
- journal article
High definition three-dimensional exoscope (VITOM 3D) for microsurgery training: a preliminary experience.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2020, v. 277, n. 9, p. 2589, doi. 10.1007/s00405-020-06014-7
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- Publication type:
- Article
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
- Published in:
- 2019
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- Publication type:
- journal article
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3755, doi. 10.1093/hmg/ddz194
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- Publication type:
- Article
Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasia.
- Published in:
- Epilepsia (Series 4), 2019, v. 60, n. 6, p. 1091, doi. 10.1111/epi.14934
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- Publication type:
- Article
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
- Published in:
- 2018
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- Publication type:
- journal article
Multimodal fiber-probe spectroscopy allows detecting epileptogenic focal cortical dysplasia in children.
- Published in:
- Journal of Biophotonics, 2017, v. 10, n. 6/7, p. 896, doi. 10.1002/jbio.201600136
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- Publication type:
- Article
Genetic Basis of Brain Malformations.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 4, p. 220, doi. 10.1159/000448639
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- Publication type:
- Article
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 7, p. 836, doi. 10.1001/jamaneurol.2016.0363
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- Publication type:
- Article
A versatile clearing agent for multi-modal brain imaging.
- Published in:
- Scientific Reports, 2015, p. 9808, doi. 10.1038/srep09808
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- Publication type:
- Article
Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-26
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- Publication type:
- Article
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 11, p. 3378, doi. 10.1093/brain/awt249
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- Publication type:
- Article
Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 892, doi. 10.1002/ajmg.a.33923
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- Publication type:
- Article
Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 164, doi. 10.1002/ajmg.a.33753
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- Publication type:
- Article
C620R mutation of the murine ret proto-oncogene: Loss of function effect in homozygotes and possible gain of function effect in heterozygotes.
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- International Journal of Cancer, 2007, v. 121, n. 2, p. 292, doi. 10.1002/ijc.22378
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- Publication type:
- Article