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Screening for viral nucleic acids in vestibular schwannoma.
- Published in:
- Journal of NeuroVirology, 2018, v. 24, n. 6, p. 730, doi. 10.1007/s13365-018-0669-6
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- Publication type:
- Article
Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard.
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- Clinical Genetics, 1999, v. 55, n. 3, p. 198, doi. 10.1034/j.1399-0004.1999.550308.x
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- Publication type:
- Article
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0146-0
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- Publication type:
- Article
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
- Published in:
- 2014
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- Publication type:
- journal article
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1899, doi. 10.1093/brain/awae018
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- Publication type:
- Article
Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.
- Published in:
- Disease Markers, 2003, v. 19, n. 1, p. 41, doi. 10.1155/2003/384971
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- Publication type:
- Article
B-Lymphocyte Depletion in Myalgic Encephalopathy/ Chronic Fatigue Syndrome. An Open-Label Phase II Study with Rituximab Maintenance Treatment.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0129898
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- Publication type:
- Article
S100A14 Interacts with S100A16 and Regulates Its Expression in Human Cancer Cells.
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- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0076058
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- Publication type:
- Article
Benefit from B-Lymphocyte Depletion Using the Anti- CD20 Antibody Rituximab in Chronic Fatigue Syndrome. A Double-Blind and Placebo-Controlled Study.
- Published in:
- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0026358
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- Publication type:
- Article
NATH, a novel gene overexpressed in papillary thyroid carcinomas.
- Published in:
- Oncogene, 2002, v. 21, n. 33, p. 5056, doi. 10.1038/sj.onc.1205687
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- Publication type:
- Article
B-Lymphocyte Depletion in Patients With Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Randomized, Double-Blind, Placebo-Controlled Trial.
- Published in:
- 2019
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- Publication type:
- journal article
Evidence for anticipation in Beckwith-Wiedemann syndrome.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1344, doi. 10.1038/ejhg.2013.71
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- Publication type:
- Article
A Pellino‐2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium–digital keloid dysplasia.
- Published in:
- FEBS Letters, 2023, v. 597, n. 9, p. 1290, doi. 10.1002/1873-3468.14597
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- Publication type:
- Article
Pellino‐2 in nonimmune cells: novel interaction partners and intracellular localization.
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- FEBS Letters, 2021, v. 595, n. 23, p. 2909, doi. 10.1002/1873-3468.14212
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- Publication type:
- Article
K<sup>+</sup> regulates relocation of Pellino‐2 to the site of NLRP3 inflammasome activation in macrophages.
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- FEBS Letters, 2021, v. 595, n. 19, p. 2437, doi. 10.1002/1873-3468.14176
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- Publication type:
- Article
Expression profile of the S100 gene family members in oral squamous cell carcinomas.
- Published in:
- Journal of Oral Pathology & Medicine, 2008, v. 37, n. 10, p. 607, doi. 10.1111/j.1600-0714.2008.00683.x
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- Publication type:
- Article
RACK1 regulates Ki-Ras-mediated signaling and morphological transformation of NIH 3T3 cells.
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- International Journal of Cancer, 2007, v. 120, n. 5, p. 961, doi. 10.1002/ijc.22373
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- Publication type:
- Article
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 1, p. 72, doi. 10.1093/hmg/ddab014
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- Publication type:
- Article
Corneal neovascularization associated with a novel PDGFRB gene variant: Implications for precision medicine treatment.
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- Acta Ophthalmologica (1755375X), 2022, v. 100, p. N.PAG, doi. 10.1111/j.1755-3768.2022.0187
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- Publication type:
- Article
Clinical features and molecular genetics of patients with ABCA4‐retinal dystrophies.
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- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 5, p. e733, doi. 10.1111/aos.14679
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- Publication type:
- Article
Activating mutations in discoidin domain receptor 2 cause Warburg‐Cinotti syndrome.
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- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.5376
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- Publication type:
- Article
GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169309
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- Publication type:
- Article
Serum BAFF and APRIL Levels, T-Lymphocyte Subsets, and Immunoglobulins after B-Cell Depletion Using the Monoclonal Anti-CD20 Antibody Rituximab in Myalgic Encephalopathy/Chronic Fatigue Syndrome.
- Published in:
- PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0161226
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- Publication type:
- Article
Adenoviral Mediated Expression of BMP2 by Bone Marrow Stromal Cells Cultured in 3D Copolymer Scaffolds Enhances Bone Formation.
- Published in:
- PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0147507
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- Publication type:
- Article
Genetic alterations associated with malignant transformation of sporadic vestibular schwannoma.
- Published in:
- Acta Neurochirurgica, 2022, v. 164, n. 2, p. 343, doi. 10.1007/s00701-021-05062-0
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- Publication type:
- Article
Activity monitoring and patient-reported outcome measures in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome patients.
- Published in:
- PLoS ONE, 2022, v. 17, n. 9, p. 1, doi. 10.1371/journal.pone.0274472
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- Publication type:
- Article
The SH3PXD2A-HTRA1 fusion transcript is extremely rare in Norwegian sporadic vestibular schwannoma patients.
- Published in:
- Journal of Neuro-Oncology, 2021, v. 154, n. 1, p. 35, doi. 10.1007/s11060-021-03796-6
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- Publication type:
- Article
Gamma Knife Radiosurgery does not alter the copy number aberration profile in sporadic vestibular schwannoma.
- Published in:
- Journal of Neuro-Oncology, 2020, v. 149, n. 3, p. 373, doi. 10.1007/s11060-020-03631-4
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- Publication type:
- Article
Microarray analysis reveals down-regulation of the tumour suppressor gene WWOX and up-regulation of the oncogene TYMS in intracranial sporadic meningiomas.
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- Journal of Neuro-Oncology, 2008, v. 88, n. 3, p. 251
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- Publication type:
- Article
Functional characterization of all‐trans retinoic acid‐induced differentiation factor (ATRAID).
- Published in:
- FEBS Open Bio, 2023, v. 13, n. 10, p. 1874, doi. 10.1002/2211-5463.13685
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- Publication type:
- Article
Genetic landscape of sporadic vestibular schwannoma.
- Published in:
- Journal of Neurosurgery, 2018, v. 128, n. 3, p. 911, doi. 10.3171/2016.10.JNS161384
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- Publication type:
- Article
S100A16 promotes differentiation and contributes to a less aggressive tumor phenotype in oral squamous cell carcinoma.
- Published in:
- 2015
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- Publication type:
- journal article
S100A16 promotes differentiation and contributes to a less aggressive tumor phenotype in oral squamous cell carcinoma.
- Published in:
- BMC Cancer, 2015, v. 15, n. 1, p. 631, doi. 10.1186/s12885-015-1622-1
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- Publication type:
- Article
PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systems.
- Published in:
- Human Mutation, 1996, v. 8, n. 3, p. 236, doi. 10.1002/(SICI)1098-1004(1996)8:3<236::AID-HUMU7>3.0.CO;2-7
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- Publication type:
- Article
Xeno-free generation of human induced pluripotent stem cells from donor-matched fibroblasts isolated from dermal and oral tissues.
- Published in:
- Stem Cell Research & Therapy, 2023, v. 14, n. 1, p. 1, doi. 10.1186/s13287-023-03403-7
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- Publication type:
- Article