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Whole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Hereditary xerocytosis: Diagnostic considerations.
- Published in:
- American Journal of Hematology, 2018, v. 93, n. 3, p. E67, doi. 10.1002/ajh.24996
- By:
- Publication type:
- Article
Clinical flow cytometric screening of SAP and XIAP expression accurately identifies patients with SH2D1A and XIAP/BIRC4 mutations.
- Published in:
- Cytometry. Part B, 2014, v. 86, n. 4, p. 263, doi. 10.1002/cyto.b.21166
- By:
- Publication type:
- Article
Recombinant human midkine stimulates proliferation and decreases dedifferentiation of auricular chondrocytes in vitro.
- Published in:
- Experimental Biology & Medicine, 2011, v. 236, n. 11, p. 1254, doi. 10.1258/ebm.2011.011022
- By:
- Publication type:
- Article
Nicotine increases apoptosis in HUVECs cultured in high glucose/high fat via Akt ubiquitination and degradation.
- Published in:
- Clinical & Experimental Pharmacology & Physiology, 2018, v. 45, n. 2, p. 198, doi. 10.1111/1440-1681.12865
- By:
- Publication type:
- Article
Atypical Chronic Myeloid Leukemia in a Patient with Aplastic Anemia.
- Published in:
- Acta Haematologica, 2019, v. 142, n. 3, p. 185, doi. 10.1159/000497137
- By:
- Publication type:
- Article
Experimental study on heat transfer of tunnel fire under the influence of longitudinal ventilation and water mist system.
- Published in:
- Fire & Materials, 2021, v. 45, n. 6, p. 772, doi. 10.1002/fam.2854
- By:
- Publication type:
- Article
Increased frequency of double and triple heterozygous gene variants in children with intrahepatic cholestasis.
- Published in:
- Hepatology Research, 2016, v. 46, n. 4, p. 306, doi. 10.1111/hepr.12545
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- Publication type:
- Article
Selectively frequent expression of CXCR5 enhances resistance to apoptosis in CD8<sup>+</sup>CD34<sup>+</sup> T cells from patients with T-cell-lineage acute lymphocytic leukemia.
- Published in:
- Oncogene, 2005, v. 24, n. 4, p. 573, doi. 10.1038/sj.onc.1208184
- By:
- Publication type:
- Article
Codeine-related adverse drug reactions in children following tonsillectomy: A prospective study.
- Published in:
- Laryngoscope, 2014, v. 124, n. 5, p. 1242, doi. 10.1002/lary.24455
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- Publication type:
- Article
Brief Report: Novel UNC13D Intronic Variant Disrupting an NF‐κB Enhancer in a Patient With Recurrent Macrophage Activation Syndrome and Systemic Juvenile Idiopathic Arthritis.
- Published in:
- Arthritis & Rheumatology, 2018, v. 70, n. 6, p. 963, doi. 10.1002/art.40438
- By:
- Publication type:
- Article
Whole-Exome Sequencing Reveals Overlap Between Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis and Familial Hemophagocytic Lymphohistiocytosis.
- Published in:
- Arthritis & Rheumatology, 2014, v. 66, n. 12, p. 3486, doi. 10.1002/art.38793
- By:
- Publication type:
- Article
Psychometric evaluation of the Chinese version of the Child Health Utility 9D (CHU9D-CHN): a school-based study in China.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A comprehensive next‐generation sequencing assay for the diagnosis of epidermolysis bullosa.
- Published in:
- Pediatric Dermatology, 2018, v. 35, n. 2, p. 188, doi. 10.1111/pde.13392
- By:
- Publication type:
- Article
CTP Synthase 1 Deficiency in Successfully Transplanted Siblings with Combined Immune Deficiency and Chronic Active EBV Infection.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation.
- Published in:
- Journal of Clinical Immunology, 2014, v. 34, n. 8, p. 910, doi. 10.1007/s10875-014-0095-3
- By:
- Publication type:
- Article
Genetic Analysis of Pakistani Families Segregating Prelingual Hearing Loss through OtoSeq.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2013, v. 149, n. 2, p. P246, doi. 10.1177/0194599813496044a315
- By:
- Publication type:
- Article
Genetic Analysis through OtoSeq of Pakistani Families Segregating Prelingual Hearing Loss.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2013, v. 149, n. 3, p. 478, doi. 10.1177/0194599813493075
- By:
- Publication type:
- Article
Performance Evaluation of the Next-Generation Sequencing Approach for Molecular Diagnosis of Hereditary Hearing Loss.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2013, v. 148, n. 6, p. 1007, doi. 10.1177/0194599813482294
- By:
- Publication type:
- Article
The Use of Next‐Generation Sequencing for Hearing Loss.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2012, v. 145, n. 2, p. P105, doi. 10.1177/0194599812451438a217
- By:
- Publication type:
- Article
Chain Walking Ethylene Copolymerization with an ATRP Inimer for One-Pot Synthesis of Hyperbranched Polyethylenes Tethered with ATRP Initiating Sites.
- Published in:
- Macromolecular Rapid Communications, 2007, v. 28, n. 22, p. 2185, doi. 10.1002/marc.200700443
- By:
- Publication type:
- Article
Personalizing Drug Selection Using Advanced Clinical Decision Support.
- Published in:
- Biomedical Informatics Insights, 2009, v. 2, p. 19, doi. 10.4137/BII.S2506
- By:
- Publication type:
- Article
Congenital dyserythropoietic anaemia type I diagnosed in a young adult with a history of splenectomy in childhood for presumed haemolytic anaemia.
- Published in:
- British Journal of Haematology, 2018, v. 182, n. 1, p. 10, doi. 10.1111/bjh.15217
- By:
- Publication type:
- Article
Hemophagocytic lymphohistiocytosis in a female patient due to a heterozygous XIAP mutation and skewed X chromosome inactivation.
- Published in:
- 2015
- By:
- Publication type:
- journal article
The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.
- Published in:
- Pediatric Blood & Cancer, 2014, v. 61, n. 6, p. 1034, doi. 10.1002/pbc.24955
- By:
- Publication type:
- Article
Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Creating China's Biosimilar Drugs Regulatory System: A Calculated Approach.
- Published in:
- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.815074
- By:
- Publication type:
- Article
Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.
- Published in:
- 2018
- By:
- Publication type:
- journal article
STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America.
- Published in:
- Pediatric Blood & Cancer, 2010, v. 55, n. 1, p. 134, doi. 10.1002/pbc.22499
- By:
- Publication type:
- Article
A personalized medicine approach to optimize care for a pediatric cystic fibrosis patient with atypical clinical symptoms.
- Published in:
- Pediatric Pulmonology, 2024, v. 59, n. 1, p. 229, doi. 10.1002/ppul.26719
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- Publication type:
- Article
PAX1 is essential for development and function of the human thymus.
- Published in:
- Science Immunology, 2020, v. 5, n. 44, p. 1, doi. 10.1126/sciimmunol.aax1036
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- Publication type:
- Article
Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation.
- Published in:
- Pediatric Diabetes, 2016, v. 17, n. 7, p. 535, doi. 10.1111/pedi.12335
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- Publication type:
- Article
Implementation of Pharmacogenetics at Cincinnati Children's Hospital Medical Center: Lessons Learned Over 14 Years of Personalizing Medicine.
- Published in:
- Clinical Pharmacology & Therapeutics, 2019, v. 105, n. 1, p. 49, doi. 10.1002/cpt.1165
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- Publication type:
- Article
Alu element insertion in <italic>PKLR</italic> gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients.
- Published in:
- Human Mutation, 2018, v. 39, n. 3, p. 389, doi. 10.1002/humu.23392
- By:
- Publication type:
- Article
Corrigendum: The Spectrum of SPTA1 -Associated Hereditary Spherocytosis.
- Published in:
- 2019
- By:
- Publication type:
- Correction Notice
The Spectrum of SPTA1 -Associated Hereditary Spherocytosis.
- Published in:
- Frontiers in Physiology, 2019, p. 1, doi. 10.3389/fphys.2019.00815
- By:
- Publication type:
- Article
Experimental Study on Improving Oil Recovery Mechanism of Injection–Production Coupling in Complex Fault-Block Reservoirs.
- Published in:
- Energies (19961073), 2024, v. 17, n. 6, p. 1505, doi. 10.3390/en17061505
- By:
- Publication type:
- Article
OtoSeq Next‐Generation DNA Sequencing in the Evaluation of Congenital Sensorineural Hearing Loss.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2014, v. 151, p. P94, doi. 10.1177/0194599814541627a205
- By:
- Publication type:
- Article
Genetic polymorphisms of tumor necrosis factor-α and lymphotoxin-α in Chinese patients with non-Hodgkin lymphoma.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Reversal of multidrug resistance by curcumin through FA/BRCA pathway in multiple myeloma cell line MOLP-2/R.
- Published in:
- Annals of Hematology, 2010, v. 89, n. 4, p. 399, doi. 10.1007/s00277-009-0831-6
- By:
- Publication type:
- Article
Autologous peripheral blood stem cell transplantation in a patient with POEMS syndrome.
- Published in:
- 2008
- By:
- Publication type:
- case study
One-Pot Synthesis of Hyperbranched Polyethylenes Tethered with Pendant Acryloyl Functionalities by Chain Walking Copolymerizations.
- Published in:
- Macromolecular Chemistry & Physics, 2008, v. 209, n. 21, p. 2232, doi. 10.1002/macp.200800407
- By:
- Publication type:
- Article
Event-specific quantitative detection of genetically modified wheat B72-8-11 based on the 3′ flanking sequence.
- Published in:
- European Food Research & Technology, 2015, v. 240, n. 4, p. 775, doi. 10.1007/s00217-014-2383-9
- By:
- Publication type:
- Article
LINC00210 plays oncogenic roles in non-small cell lung cancer by sponging microRNA-328-5p.
- Published in:
- Experimental & Therapeutic Medicine, 2020, v. 19, n. 5, p. 3325, doi. 10.3892/etm.2020.8593
- By:
- Publication type:
- Article
Mediastinal small cell cancer associated with Lambert-Eaton myasthenic syndrome: A case report.
- Published in:
- Experimental & Therapeutic Medicine, 2015, v. 10, n. 1, p. 117, doi. 10.3892/etm.2015.2454
- By:
- Publication type:
- Article
Lifestyle patterns influence the composition of the gut microbiome in a healthy Chinese population.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41532-4
- By:
- Publication type:
- Article
Silencing survivin expression inhibits the tumor growth of non-small-cell lung cancer cells in vitro and in vivo.
- Published in:
- Molecular Medicine Reports, 2015, v. 11, n. 1, p. 639, doi. 10.3892/mmr.2014.2729
- By:
- Publication type:
- Article
Treatment of Chylothorax complicating pulmonary resection with hypertonic glucose Pleurodesis.
- Published in:
- 2021
- By:
- Publication type:
- journal article