Found: 25
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Novel variants in TECRL leading to catecholaminergic polymorphic ventricular tachycardia.
- Published in:
- Life Science Alliance, 2024, v. 7, n. 8, p. 1, doi. 10.26508/lsa.202402572
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- Publication type:
- Article
Rapid genome sequencing identifies novel variants in complement factor I.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006239
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- Publication type:
- Article
Gene editing improves endoplasmic reticulum-mitochondrial contacts and unfolded protein response in Friedreich’s ataxia iPSC-derived neurons.
- Published in:
- Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1323491
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- Publication type:
- Article
Predictors of successful discontinuation of continuous kidney replacement therapy in a pediatric cohort.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 7, p. 2221, doi. 10.1007/s00467-022-05782-0
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- Publication type:
- Article
Paediatric pulmonary hypertension caused by an ACVRL1 mutation presenting as Ortner syndrome.
- Published in:
- 2018
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- Publication type:
- journal article
Hemorrhagic Transformation Following Childhood Cardioembolic Stroke Is Not Increased in Anticoagulated Patients.
- Published in:
- Journal of Child Neurology, 2022, v. 37, n. 4, p. 273, doi. 10.1177/08830738211025866
- By:
- Publication type:
- Article
The Utility of Infectious and Neurodiagnostic Testing in Children With Complex Febrile Seizures Requiring Mechanical Ventilation.
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 9, p. 735, doi. 10.1177/08830738211000507
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- Publication type:
- Article
Multiple layers of molecular controls modulate self-renewal and neuronal lineage specification of embryonic stem cells.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. R1, p. R67, doi. 10.1093/hmg/ddn065
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- Publication type:
- Article
LINE-1 retrotransposition in human embryonic stem cells.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 13, p. 1569, doi. 10.1093/hmg/ddm105
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- Publication type:
- Article
The necessary junk: new functions for transposable elements.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. R2, p. R159, doi. 10.1093/hmg/ddm196
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- Publication type:
- Article
L1 retrotransposition in neurons is modulated by MeCP2.
- Published in:
- Nature, 2010, v. 468, n. 7322, p. 443, doi. 10.1038/nature09544
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- Publication type:
- Article
L1 retrotransposition in human neural progenitor cells.
- Published in:
- Nature, 2009, v. 460, n. 7259, p. 1127, doi. 10.1038/nature08248
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- Publication type:
- Article
Use of Metagenomic Next-Generation Sequencing to Identify Pathogens in Pediatric Osteoarticular Infections.
- Published in:
- Open Forum Infectious Diseases, 2021, v. 8, n. 7, p. 1, doi. 10.1093/ofid/ofab346
- By:
- Publication type:
- Article
Metagenomic Next-Generation Sequencing for Pathogen Detection and Transcriptomic Analysis in Pediatric Central Nervous System Infections.
- Published in:
- Open Forum Infectious Diseases, 2021, v. 8, n. 6, p. 1, doi. 10.1093/ofid/ofab104
- By:
- Publication type:
- Article
Utilizing extracorporeal membrane oxygenation and surfactant in the management of severe acute respiratory distress syndrome due to hydrocarbon pneumonitis.
- Published in:
- Perfusion, 2024, v. 39, n. 3, p. 615, doi. 10.1177/02676591221148605
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- Publication type:
- Article
An RNA code for the FOX2 splicing regulator revealed by mapping RNA-protein interactions in stem cells.
- Published in:
- Nature Structural & Molecular Biology, 2009, v. 16, n. 2, p. 130, doi. 10.1038/nsmb.1545
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- Publication type:
- Article
Regulatable Acetylcholine-Producing Fibroblasts Enhance Cognitive Performance.
- Published in:
- Molecular Therapy, 2006, v. 13, n. 1, p. 175, doi. 10.1016/j.ymthe.2005.08.001
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- Publication type:
- Article
Cell type‐specific enhancer‐promoter connectivity maps in the human brain and associations with Alzheimer's disease risk: Developing topics.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.047113
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- Publication type:
- Article
Alternative Splicing Events Identified in Human Embryonic Stem Cells and Neural Progenitors.
- Published in:
- PLoS Computational Biology, 2007, v. 3, n. 10, p. e196, doi. 10.1371/journal.pcbi.0030196
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- Publication type:
- Article
Gaps in diagnosing suspected infection in immunocompromised children with cancer: A systematic review.
- Published in:
- Pediatric Blood & Cancer, 2024, v. 71, n. 2, p. 1, doi. 10.1002/pbc.30794
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- Publication type:
- Article
Choline Transporter 1 Maintains Cholinergic Function in Choline Acetyltransferase Haploinsufficiency.
- Published in:
- Journal of Neuroscience, 2004, v. 24, n. 24, p. 5459, doi. 10.1523/JNEUROSCI.1106-04.2004
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- Publication type:
- Article
Metagenomic sequencing and evaluation of the host response in the pediatric aerodigestive population.
- Published in:
- Pediatric Pulmonology, 2021, v. 56, n. 2, p. 516, doi. 10.1002/ppul.25198
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- Publication type:
- Article
Targeting BACE1 with siRNAs ameliorates Alzheimer disease neuropathology in a transgenic model.
- Published in:
- Nature Neuroscience, 2005, v. 8, n. 10, p. 1343, doi. 10.1038/nn1531
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- Publication type:
- Article
Gastric Trichobezoar Causing Intermittent Small Bowel Obstruction: Report of a Case and Review of the Literature.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
Clinical application of cell-free next-generation sequencing for infectious diseases at a tertiary children's hospital.
- Published in:
- 2021
- By:
- Publication type:
- journal article