Found: 87
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Evading the AAV Immune Response in Mucopolysaccharidoses.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 10, p. 3433, doi. 10.3390/ijms21103433
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- Publication type:
- Article
Monogenic causes of pigmentary mosaicism.
- Published in:
- Human Genetics, 2022, v. 141, n. 11, p. 1771, doi. 10.1007/s00439-022-02437-w
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- Publication type:
- Article
Purification, crystallization and preliminary X-ray crystallographic analysis of human IL-18 and its extracellular complexes.
- Published in:
- Acta Crystallographica: Section F, Structural Biology Communications, 2014, v. 70, n. 10, p. 1351, doi. 10.1107/S2053230X14016926
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- Publication type:
- Article
Loss‐of‐function polymorphisms in NQO1 are not associated with the development of subacute myelo‐optico‐neuropathy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2470
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- Publication type:
- Article
Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo‐optico‐neuropathy (SMON).
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 1, p. 1, doi. 10.1002/mgg3.1845
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- Publication type:
- Article
Pediatric case of acquired progressive lymphatic anomaly treated with sirolimus.
- Published in:
- 2023
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- Publication type:
- Case Study
A case of sirolimus treatment of kaposiform hemangioendothelioma in the neck.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15000
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- Publication type:
- Article
Propranolol for infantile hemangiomas with hyperinsulinemic hypoglycemia.
- Published in:
- 2021
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- Publication type:
- Case Study
Alice in Wonderland syndrome associated with influenza virus infection.
- Published in:
- Pediatrics International, 2020, v. 62, n. 12, p. 1391, doi. 10.1111/ped.14341
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- Publication type:
- Article
Neonatal bacteremia caused by emm type 80 group A Streptococcus: A case report.
- Published in:
- 2020
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- Publication type:
- Case Study
Mondini dysplasia with recurrent bacterial meningitis caused by three different pathogens.
- Published in:
- Pediatrics International, 2015, v. 57, n. 6, p. 1192, doi. 10.1111/ped.12731
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- Publication type:
- Article
Selective Labeling of Proteins on Living Cell Membranes Using Fluorescent Nanodiamond Probes.
- Published in:
- Nanomaterials (2079-4991), 2016, v. 6, n. 4, p. 56, doi. 10.3390/nano6040056
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- Publication type:
- Article
Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.905960
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- Publication type:
- Article
Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles.
- Published in:
- 2021
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- Publication type:
- Case Study
A20 Haploinsufficiency in East Asia.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.780689
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- Publication type:
- Article
Dysregulation of the Intestinal Microbiome in Patients With Haploinsufficiency of A20.
- Published in:
- Frontiers in Cellular & Infection Microbiology, 2022, v. 12, p. 1, doi. 10.3389/fcimb.2021.787667
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- Publication type:
- Article
The role of dendritic cells in the generation of CD4+ CD25HI Foxp3+ T cells induced by amino acid copolymers.
- Published in:
- International Immunology, 2013, v. 25, n. 1, p. 53, doi. 10.1093/intimm/dxs087
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- Publication type:
- Article
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-27085-y
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- Publication type:
- Article
Changes in cell morphology and function induced by the NRAS Q61R mutation in lymphatic endothelial cells.
- Published in:
- PLoS ONE, 2024, v. 19, n. 5, p. 1, doi. 10.1371/journal.pone.0289187
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- Publication type:
- Article
Endoscopic third ventriculostomy for hydrocephalus in a patient with achondroplasia: a case report and literature review.
- Published in:
- Child's Nervous System, 2021, v. 37, n. 12, p. 3907, doi. 10.1007/s00381-021-05129-4
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- Publication type:
- Article
Multisystem inflammatory syndrome in children (MIS-C) without antecedent clinical symptoms related to COVID-19: The increasing importance of distinguishing MIS-C in patients with Kawasaki disease-like features.
- Published in:
- 2023
- By:
- Publication type:
- Letter
A case of A20 haploinsufficiency complicated by autoimmune hepatitis.
- Published in:
- Hepatology Research, 2024, v. 54, n. 6, p. 606, doi. 10.1111/hepr.14003
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- Publication type:
- Article
TRAM Is Involved in IL-18 Signaling and Functions as a Sorting Adaptor for MyD88.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038423
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- Publication type:
- Article
Merkel Cell Polyomavirus-positive Merkel Cell Carcinoma in a Patient with Epidermodysplasia Verruciformis.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Sweet's Syndrome Successfully Treated with Granulocyte and Monocyte Adsorption Apheresis.
- Published in:
- Case Reports in Dermatology, 2017, v. 9, n. 2, p. 13, doi. 10.1159/000475878
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- Publication type:
- Article
Validation of measurement scores for evaluating vascular anomaly skin lesions.
- Published in:
- Journal of Dermatology, 2021, v. 48, n. 7, p. 993, doi. 10.1111/1346-8138.15839
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- Publication type:
- Article
Primary Immunodeficiency Disease Mimicking Pediatric Bechet's Disease.
- Published in:
- Children, 2021, v. 8, n. 2, p. 1, doi. 10.3390/children8020075
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- Publication type:
- Article
Immediate postnatal central hypothyroidism caused by maternal Graves' disease: Importance of early screening.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
An infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations.
- Published in:
- Experimental & Therapeutic Medicine, 2020, v. 20, n. 5, p. N.PAG, doi. 10.3892/etm.2020.9166
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- Publication type:
- Article
A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency.
- Published in:
- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.517544
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- Publication type:
- Article
adult case of suspected A20 haploinsufficiency mimicking polyarteritis nodosa.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesis.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 16, p. 1420, doi. 10.1093/hmg/ddae080
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- Publication type:
- Article
The structural basis for receptor recognition of human interleukin-18.
- Published in:
- Nature Communications, 2014, v. 5, n. 12, p. 5340, doi. 10.1038/ncomms6340
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- Publication type:
- Article
Pyoderma Gangrenosum, Acne and Suppurative Hidradenitis Syndrome Treated with Granulocyte and Monocyte Adsorption Apheresis.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Nationwide survey of Baller-Gerold syndrome in Japanese population.
- Published in:
- Molecular Medicine Reports, 2017, v. 15, n. 5, p. 3222, doi. 10.3892/mmr.2017.6408
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- Publication type:
- Article
Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.
- Published in:
- Molecular Medicine Reports, 2016, v. 14, n. 5, p. 4906, doi. 10.3892/mmr.2016.5819
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- Publication type:
- Article
The Long-Term Efficacy of Cochlear Implantation for Hearing Loss in Muckel-Wells Syndrome.
- Published in:
- Journal of International Advanced Otology, 2019, v. 15, n. 3, p. 454, doi. 10.5152/iao.2019.6871
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- Publication type:
- Article
Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 3, p. 585, doi. 10.1007/s10875-022-01405-3
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- Publication type:
- Article
Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 466, doi. 10.1007/s10875-022-01396-1
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- Publication type:
- Article
Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1360, doi. 10.1007/s10875-022-01308-3
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- Publication type:
- Article
Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 4, p. 780, doi. 10.1007/s10875-021-00975-y
- By:
- Publication type:
- Article
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 1, p. 125, doi. 10.1007/s10875-020-00885-5
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- Publication type:
- Article
Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation.
- Published in:
- 2020
- By:
- Publication type:
- Letter
IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.
- Published in:
- Journal of Clinical Immunology, 2017, v. 37, n. 6, p. 529, doi. 10.1007/s10875-017-0417-3
- By:
- Publication type:
- Article
A Complement Factor B Mutation in a Large Kindred with Atypical Hemolytic Uremic Syndrome.
- Published in:
- Journal of Clinical Immunology, 2014, v. 34, n. 6, p. 691, doi. 10.1007/s10875-014-0058-8
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- Publication type:
- Article