Found: 20
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Interferon-γ Autoantibodies as Predisposing Factor for Nontuberculous Mycobacterial Infection.
- Published in:
- 2016
- By:
- Publication type:
- case study
A partial form of recessive STAT1 deficiency in humans.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Mendelian Susceptibility to Mycobacterial Disease in Egyptian Children.
- Published in:
- Mediterranean Journal of Hematology & Infectious Diseases, 2012, v. 4, n. 1, p. 1, doi. 10.4084/MJHID.2012.033
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- Publication type:
- Article
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 4, p. 769, doi. 10.1093/hmg/dds484
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- Publication type:
- Article
A novel form of cell type-specific partial IFN-γR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 3, p. 434, doi. 10.1093/hmg/ddp507
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- Publication type:
- Article
Dinuclear Macrocyclic Quinoline Bridged Mercury and Silver Bis( N-heterocyclic Carbene) Complexes: Synthesis, Structure, and Spectroscopic Studies.
- Published in:
- Zeitschrift für Anorganische und Allgemeine Chemie, 2013, v. 639, n. 6, p. 881, doi. 10.1002/zaac.201300067
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- Publication type:
- Article
Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome.
- Published in:
- Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 807, doi. 10.1007/s10875-020-00803-9
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- Publication type:
- Article
Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency.
- Published in:
- Journal of Clinical Immunology, 2014, v. 34, n. 8, p. 904, doi. 10.1007/s10875-014-0085-5
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- Publication type:
- Article
A Novel Homozygous p.R1105X Mutation of the <i>AP4E1</i> Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0058286
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- Publication type:
- Article
Immunogenetics of gastrointestinal cancers: A systematic review and retrospective survey of inborn errors of immunity in humans.
- Published in:
- Journal of Gastroenterology & Hepatology, 2022, v. 37, n. 6, p. 973, doi. 10.1111/jgh.15848
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- Publication type:
- Article
Mendelian susceptibility to mycobacterial disease: 2014–2018 update.
- Published in:
- Immunology & Cell Biology, 2019, v. 97, n. 4, p. 360, doi. 10.1111/imcb.12210
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- Publication type:
- Article
Characterization of hepatitis B virus reverse transcriptase sequences in Chinese treatment naive patients.
- Published in:
- Journal of Gastroenterology & Hepatology, 2009, v. 24, n. 8, p. 1417, doi. 10.1111/j.1440-1746.2009.05864.x
- By:
- Publication type:
- Article
No mutation was found in the alpha-subunit of the mitochondrial tri-functional protein in one patient with severe acute fatty liver of pregnancy and her relatives.
- Published in:
- Journal of Gastroenterology & Hepatology, 2007, v. 22, n. 12, p. 2107, doi. 10.1111/j.1440-1746.2006.04682.x
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- Publication type:
- Article
Interferon-Driven Immune Dysregulation in Down Syndrome: A Review of the Evidence.
- Published in:
- Journal of Inflammation Research, 2021, v. 14, p. 5187, doi. 10.2147/JIR.S280953
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- Publication type:
- Article
Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 1, doi. 10.1186/1471-2350-12-6
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- Publication type:
- Article
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease.
- Published in:
- Human Mutation, 2012, v. 33, n. 9, p. 1377, doi. 10.1002/humu.22113
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- Publication type:
- Article
purely quantitative form of partial recessive IFN- γ R2 deficiency caused by mutations of the initiation or second codon.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 3, p. 524, doi. 10.1093/hmg/ddy357
- By:
- Publication type:
- Article
Epidermodysplasia Verruciformis and Vδ2 γδ T-cell Expansion in STK4 Deficiency.
- Published in:
- 2024
- By:
- Publication type:
- Letter
Anesthesia Assistance in Screening Colonoscopy and Adenoma Detection Rate Among Trainees.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-42202-1
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- Publication type:
- Article