Found: 44
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Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
- Published in:
- Scientific Reports, 2014, p. 1, doi. 10.1038/srep07132
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- Publication type:
- Article
Novel compound heterozygous LIAS mutations cause glycine encephalopathy.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 10, p. 631, doi. 10.1038/jhg.2015.72
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- Publication type:
- Article
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 6, p. 391, doi. 10.1038/jhg.2013.25
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- Publication type:
- Article
Systemic sclerosis and pseudomesotheliomatous adenocarcinoma of the lung.
- Published in:
- Modern Rheumatology, 2006, v. 16, n. 3, p. 165, doi. 10.3109/s10165-006-0472-8
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- Publication type:
- Article
De novo SOX11 mutations cause Coffin-Siris syndrome.
- Published in:
- Nature Communications, 2014, v. 5, n. 6, p. 4011, doi. 10.1038/ncomms5011
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- Publication type:
- Article
Biallelic COLGALT1 variants are associated with cerebral small vessel disease.
- Published in:
- 2018
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- Publication type:
- journal article
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.
- Published in:
- 2018
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- Publication type:
- journal article
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
- Published in:
- 2018
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- Publication type:
- journal article
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
- Published in:
- Annals of Neurology, 2015, v. 78, n. 3, p. 375, doi. 10.1002/ana.24444
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- Publication type:
- Article
Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder.
- Published in:
- Journal of Headache & Pain, 2015, v. 16, p. 1, doi. 10.1186/s10194-015-0519-3
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- Publication type:
- Article
Anti‐viral effects of interferon‐λ3 on hepatitis B virus infection in cell culture.
- Published in:
- Hepatology Research, 2020, v. 50, n. 3, p. 283, doi. 10.1111/hepr.13449
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- Publication type:
- Article
Antimicrobial peptide LL-37 attenuates infection of hepatitis C virus.
- Published in:
- Hepatology Research, 2016, v. 46, n. 9, p. 924, doi. 10.1111/hepr.12627
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- Publication type:
- Article
Increased expression of immuno-inhibitory molecules on peripheral blood lymphocytes may suppress disease progression in autoimmune hepatitis.
- Published in:
- Hepatology Research, 2015, v. 45, n. 11, p. 1152, doi. 10.1111/hepr.12479
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- Publication type:
- Article
Gene expression of interleukin-12 receptor β2 chain and Th1 population of peripheral blood mononuclear cells in chronic hepatitis C
- Published in:
- Hepatology Research, 2002, v. 22, n. 4, p. 270, doi. 10.1016/S1386-6346(01)00151-6
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- Publication type:
- Article
<italic>De novo</italic> variants in <italic>CAMK2A</italic> and <italic>CAMK2B</italic> cause neurodevelopmental disorders.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 3, p. 280, doi. 10.1002/acn3.528
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- Publication type:
- Article
GRIN2D variants in three cases of developmental and epileptic encephalopathy.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. 538, doi. 10.1111/cge.13454
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- Publication type:
- Article
A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. 548, doi. 10.1111/cge.13423
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- Publication type:
- Article
Hepatitis B Virus Genotype-Dependent Vulnerability of Infected Cells to Immune Reaction in the Early Phase of Infection.
- Published in:
- Frontiers in Microbiology, 2019, p. 1, doi. 10.3389/fmicb.2019.02427
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- Publication type:
- Article
Single Strain Isolation Method for Cell Culture-Adapted Hepatitis C Virus by End-Point Dilution and Infection.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0098168
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- Publication type:
- Article
<i>FOXC2</i> Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0080548
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- Publication type:
- Article
A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia.
- Published in:
- British Journal of Haematology, 2018, v. 181, n. 6, p. 843, doi. 10.1111/bjh.14710
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- Publication type:
- Article
A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
- Published in:
- Human Genetics, 2014, v. 133, n. 2, p. 225, doi. 10.1007/s00439-013-1372-6
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- Publication type:
- Article
Crystallization of the Ets1-Runx1-CBFβ-DNA complex formed on the TCRα gene enhancer.
- Published in:
- Acta Crystallographica: Section F, Structural Biology Communications, 2014, v. 70, n. 10, p. 1380, doi. 10.1107/S2053230X14018470
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- Publication type:
- Article
HEPATOLOGY Ribavirin upregulates interleukin-12 receptor and induces T cell differentiation towards type 1 in chronic hepatitis C.
- Published in:
- Journal of Gastroenterology & Hepatology, 2004, v. 19, n. 5, p. 558, doi. 10.1111/j.1440-1746.2003.03329.x
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- Publication type:
- Article
Structural basis of transcription regulation by CNC family transcription factor, Nrf2.
- Published in:
- Nucleic Acids Research, 2022, v. 50, n. 21, p. 12543, doi. 10.1093/nar/gkac1102
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- Publication type:
- Article
Phosphorylation of an intrinsically disordered region of Ets1 shifts a multi-modal interaction ensemble to an auto-inhibitory state.
- Published in:
- Nucleic Acids Research, 2018, v. 46, n. 5, p. 2243, doi. 10.1093/nar/gkx1297
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- Publication type:
- Article
Molecular mechanisms of cooperative binding of transcription factors Runx1–CBFβ–Ets1 on the TCRα gene enhancer.
- Published in:
- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172654
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- Publication type:
- Article
Dynamics of immature subsets of dendritic cells during antiviral therapy in HLA-A24-positive chronic hepatitis C patients.
- Published in:
- 2006
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- Publication type:
- journal article
Dynamics of immature subsets of dendritic cells during antiviral therapy in HLA-A24–positive chronic hepatitis C patients.
- Published in:
- Journal of Gastroenterology, 2006, v. 41, n. 8, p. 758, doi. 10.1007/s00535-006-1843-9
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- Publication type:
- Article
Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation.
- Published in:
- Human Mutation, 2013, v. 34, n. 3, p. 446, doi. 10.1002/humu.22257
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- Publication type:
- Article
KDM6 A Point Mutations Cause Kabuki Syndrome.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 108, doi. 10.1002/humu.22229
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- Publication type:
- Article
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. 966, doi. 10.1002/humu.21300
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- Publication type:
- Article
Lymphotropic HCV strain can infect human primary naïve CD4+ cells and affect their proliferation and IFN-γ secretion activity.
- Published in:
- 2011
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- Publication type:
- journal article
Lymphotropic HCV strain can infect human primary naïve CD4 cells and affect their proliferation and IFN-γ secretion activity.
- Published in:
- Journal of Gastroenterology, 2011, v. 46, n. 2, p. 232, doi. 10.1007/s00535-010-0297-2
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- Publication type:
- Article
Transient elastography for measurement of liver stiffness measurement can detect early significant hepatic fibrosis in Japanese patients with viral and nonviral liver diseases.
- Published in:
- Journal of Gastroenterology, 2008, v. 43, n. 9, p. 720, doi. 10.1007/s00535-008-2225-2
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- Publication type:
- Article
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 8, p. 1421, doi. 10.1093/hmg/ddy052
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- Publication type:
- Article
Hepatitis B Virus Replication Could Enhance Regulatory T Cell Activity by Producing Soluble Heat Shock Protein 60 From Hepatocytes.
- Published in:
- Journal of Infectious Diseases, 2010, v. 202, n. 2, p. 202, doi. 10.1086/653496
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- Publication type:
- Article
De novo DNM1 mutations in two cases of epileptic encephalopathy.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 1, p. e18, doi. 10.1111/epi.13257
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- Publication type:
- Article
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 6, p. 841, doi. 10.1111/epi.12987
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- Publication type:
- Article
Recovery of functional cytotoxic T lymphocytes during lamivudine therapy by acquiring multi?specificity.
- Published in:
- Journal of Medical Virology, 2004, v. 74, n. 3, p. 425
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- Publication type:
- Article
Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0142126
- By:
- Publication type:
- Article
Low CD274 expression increases tumorigenesis and cancer stem cell phenotypes in cholangiocarcinoma. Anti-CD274 staining of a clinical specimen from a patient with cholangiocarcinoma by surgical resection.
- Published in:
- 2014
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- Publication type:
- Other
Suppressive expression of CD274 increases tumorigenesis and cancer stem cell phenotypes in cholangiocarcinoma.
- Published in:
- Cancer Science, 2014, v. 105, n. 6, p. 667, doi. 10.1111/cas.12406
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- Publication type:
- Article
Characterization of the epithelial cell adhesion molecule (EpCAM)<sup>+</sup> cell population in hepatocellular carcinoma cell lines.
- Published in:
- Cancer Science, 2010, v. 101, n. 10, p. 2145, doi. 10.1111/j.1349-7006.2010.01661.x
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- Publication type:
- Article