Found: 33
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Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006169
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- Publication type:
- Article
Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005496
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- Publication type:
- Article
NAA10 variant in 38-week-gestation male patient: a case study.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005868
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- Article
Quantifying and Trending the Thermal Signal as an Index of Perfusion in Patients Sedated with Propofol.
- Published in:
- Healthcare (2227-9032), 2018, v. 6, n. 3, p. 87, doi. 10.3390/healthcare6030087
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- Publication type:
- Article
Pediatric Multi-Organ Dysfunction Syndrome: Analysis by an Untargeted "Shotgun" Lipidomic Approach Reveals Low-Abundance Plasma Phospholipids and Dynamic Recovery over 8-Day Period, a Single-Center Observational Study.
- Published in:
- Nutrients, 2021, v. 13, n. 3, p. 774, doi. 10.3390/nu13030774
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- Article
Dietary Intake Influences Metabolites in Healthy Infants: A Scoping Review.
- Published in:
- Nutrients, 2020, v. 12, n. 7, p. 2073, doi. 10.3390/nu12072073
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- Publication type:
- Article
Risk factors associated with pediatric intensive care unit admission and mortality after pediatric stem cell transplant: possible role of renal involvement.
- Published in:
- World Journal of Pediatrics, 2013, v. 9, n. 2, p. 140, doi. 10.1007/s12519-012-0391-z
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- Publication type:
- Article
Understanding patient‐level immune response to COVID‐19 can inform treatment options.
- Published in:
- FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.R4198
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- Publication type:
- Article
Profiling systemic physiology through blood‐based multidimensional RNAseq.
- Published in:
- FASEB Journal, 2021, v. 35, p. N.PAG, doi. 10.1096/fasebj.2021.35.S1.03868
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- Publication type:
- Article
Respiratory Impairment after Early Red Cell Transfusion in Pediatric Patients with ALI/ARDS.
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- Critical Care Research & Practice, 2012, p. 1, doi. 10.1155/2012/646473
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- Publication type:
- Article
Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.67097
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- Publication type:
- Article
Emerging Role of ODC1 in Neurodevelopmental Disorders and Brain Development.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 470, doi. 10.3390/genes12040470
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- Publication type:
- Article
Blood management in pediatric spinal deformity surgery: review of a 2-year experience.
- Published in:
- Transfusion, 2011, v. 51, n. 10, p. 2133, doi. 10.1111/j.1537-2995.2011.03175.x
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- Publication type:
- Article
Circulating Progenitor Cells and Childhood Cardiovascular Disease.
- Published in:
- Pediatric Cardiology, 2016, v. 37, n. 2, p. 225, doi. 10.1007/s00246-015-1300-8
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- Publication type:
- Article
Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation.
- Published in:
- Biochemical Journal, 2019, v. 476, n. 14, p. 2047, doi. 10.1042/BCJ20190294
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- Publication type:
- Article
Gene Therapy for Genetic Syndromes: Understanding the Current State to Guide Future Care.
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- BioTech, 2024, v. 13, n. 1, p. 1, doi. 10.3390/biotech13010001
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- Publication type:
- Article
Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders.
- Published in:
- Medical Sciences, 2023, v. 11, n. 2, p. 29, doi. 10.3390/medsci11020029
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- Publication type:
- Article
Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 2, p. 257, doi. 10.3390/biom13020257
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- Publication type:
- Article
Loss of Health Promoting Bacteria in the Gastrointestinal Microbiome of PICU Infants with Bronchiolitis: A Single-Center Feasibility Study.
- Published in:
- Children, 2022, v. 9, n. 1, p. 114, doi. 10.3390/children9010114
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- Publication type:
- Article
The Feasibility of Studying Metabolites in PICU Multi-Organ Dysfunction Syndrome Patients over an 8-Day Course Using an Untargeted Approach.
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- Children, 2021, v. 8, n. 2, p. 1, doi. 10.3390/children8020151
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- Publication type:
- Article
Understanding Suicide in Our Community through the Lens of the Pediatric ICU: An Epidemiological Review (2011-2017) of One Midwestern City in the US.
- Published in:
- Children, 2021, v. 8, n. 2, p. 1, doi. 10.3390/children8020059
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- Publication type:
- Article
Linguistic isolation correlates with length of stay and mortality for pediatric oncology patients in California.
- Published in:
- Cancer Medicine, 2024, v. 13, n. 13, p. 1, doi. 10.1002/cam4.7371
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- Publication type:
- Article
Introduction to Personalized Medicine in Pediatrics.
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- 2022
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- Publication type:
- journal article
Ferumoxytol Infusion in Pediatric Patients with Gastrointestinal Disorders: First Case Series.
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- Annals of Pharmacotherapy, 2011, v. 45, n. 12, p. 1586, doi. 10.1345/aph.1Q283
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- Publication type:
- Article
Impact of continuous renal replacement therapy on oxygenation in children with acute lung injury after allogeneic hematopoietic stem cell transplantation.
- Published in:
- Pediatric Blood & Cancer, 2010, v. 55, n. 3, p. 540, doi. 10.1002/pbc.22561
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- Publication type:
- Article
Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report.
- Published in:
- 2023
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- Publication type:
- Case Study
Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report.
- Published in:
- 2023
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- Publication type:
- Case Study
Red cell transfusions as an independent risk for mortality in critically ill children.
- Published in:
- Journal of Intensive Care, 2016, v. 4, p. 1, doi. 10.1186/s40560-015-0122-3
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- Publication type:
- Article
Combined Plasma and Urinary Metabolomics Uncover Metabolic Perturbations Associated with Severe Respiratory Syncytial Viral Infection and Future Development of Asthma in Infant Patients.
- Published in:
- Metabolites (2218-1989), 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/metabo12020178
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- Publication type:
- Article
Hexosylceramides and Glycerophosphatidylcholine GPC(36:1) Increase in Multi-Organ Dysfunction Syndrome Patients with Pediatric Intensive Care Unit Admission over 8-Day Hospitalization.
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 5, p. 339, doi. 10.3390/jpm11050339
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- Publication type:
- Article
Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3485, doi. 10.1002/ajmg.a.62473
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- Publication type:
- Article
Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2548, doi. 10.1002/ajmg.a.40523
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- Publication type:
- Article
CCR5 and Biological Complexity: The Need for Data Integration and Educational Materials to Address Genetic/Biological Reductionism at the Interface of Ethical, Legal, and Social Implications.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.790041
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- Publication type:
- Article