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Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive

American journal of human genetics, 2019-01, Vol.104 (1), p.179-185

2019

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Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience

Molecular genetics and metabolism reports, 2023-12, Vol.37, p.101002-101002, Article 101002

2023

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Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

American journal of human genetics, 2020-09, Vol.107 (3), p.544-554

2020

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Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101050-101050, Article 101050

2024

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Troglitazone inhibits formation of early atherosclerotic lesions in diabetic and nondiabetic low density lipoprotein receptor-deficient mice

Arteriosclerosis, thrombosis, and vascular biology, 2001-03, Vol.21 (3), p.365-371

2001

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Clinical review of genetic epileptic encephalopathies

European journal of medical genetics, 2012-05, Vol.55 (5), p.281-298

2012

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2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features

European journal of medical genetics, 2012-05, Vol.55 (5), p.354-357

2012

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2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features

European journal of medical genetics, 2012-01, Vol.55 (1), p.59-62

2012

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Acute Pancreatitis Secondary to Percutaneous Liver Biopsy-Associated Hemobilia: a Case Report and Literature Review

The American journal of gastroenterology, 2008-09, Vol.103, p.S315

2008

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An Unusual Path to the Diagnosis of Crohnʼs Disease; from Gastric Outlet Obstruction to Fat Wrapping of the Terminal Ileum: 513

The American journal of gastroenterology, 2007-09, Vol.102, p.S304-S305

2007

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Sequence and immunologic conservation of Anaplasma marginale OmpA within strains from Ghana as compared to the predominant OmpA variant

PloS one, 2019-07, Vol.14 (7), p.e0217661

2019

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High-capacitance polyurethane ionogels for low-voltage operated organic transistors and pressure sensors

Journal of materials chemistry. C, Materials for optical and electronic devices, 2020-12, Vol.8 (47), p.1717-17113

2020

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Sex and age differences in cognitive bias and neural activation in response to cognitive bias testing

Neurobiology of stress, 2022-05, Vol.18, p.100458, Article 100458

2022

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Improved Electron Transport in Ambipolar Organic Field-Effect Transistors with PMMA/Polyurethane Blend Dielectrics

Macromolecular Research, 2020, 28(13), , pp.1248-1252

2020

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Low-voltage operated solid-state electrolyte-gated ambipolar organic field-effect transistors

Organic electronics, 2018-01, Vol.52, p.257-263

2018

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Effect of vacuum metalized gate electrode in top-gate solid-state electrolyte-gated organic transistors

Organic electronics, 2018-04, Vol.55, p.63-68

2018

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Exploring low-k dielectrics as structuring polymers for solid-state electrolyte-gated transistors

Organic electronics, 2019-12, Vol.75, p.105434, Article 105434

2019

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High performance p-type chlorinated-benzothiadiazole-based polymer electrolyte gated organic field-effect transistors

Organic electronics, 2018-03, Vol.54, p.255-260

2018

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Antiplatelet Therapy of Cilostazol or Sarpogrelate with Aspirin and Clopidogrel after Percutaneous Coronary Intervention: A Retrospective Cohort Study Using the Korean National Health Insurance Claim Database

PloS one, 2016-03, Vol.11 (3), p.e0150475-e0150475

2016

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Single-Ventricle Outcomes After Neonatal Palliation of Severe Ebstein Anomaly With Modified Starnes Procedure

Circulation (New York, N.Y.), 2016-10, Vol.134 (17), p.1257-1264

2016

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Neuroleptic malignant syndrome secondary to olanzapine, a presentation with severe acute kidney injury requiring hemodialysis: a case report

Journal of medical case reports, 2022-10, Vol.16 (1), p.1-366, Article 366

2022

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Correction: High-capacitance polyurethane ionogels for low-voltage operated organic transistors and pressure sensors

Journal of materials chemistry. C, Materials for optical and electronic devices, 2021-01, Vol.9 (3), p.118-118

2021

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In vitro model of postoncosphere development, and in vivo infection abilities of Taenia solium and Taenia saginata

PLoS neglected tropical diseases, 2019-03, Vol.13 (3), p.e0007261-e0007261

2019

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Abstract 20041: Single Ventricle Outcome Following Neonatal Palliation of Severe Ebstein’s Anomaly With Modified Starnes Procedure

Circulation (New York, N.Y.), 2015-11, Vol.132 (Suppl_3 Suppl 3), p.A20041-A20041

2015

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Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive

Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect

Troglitazone inhibits formation of early atherosclerotic lesions in diabetic and nondiabetic low density lipoprotein receptor-deficient mice

Clinical review of genetic epileptic encephalopathies

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features

Acute Pancreatitis Secondary to Percutaneous Liver Biopsy-Associated Hemobilia: a Case Report and Literature Review

An Unusual Path to the Diagnosis of Crohnʼs Disease; from Gastric Outlet Obstruction to Fat Wrapping of the Terminal Ileum: 513

Sequence and immunologic conservation of Anaplasma marginale OmpA within strains from Ghana as compared to the predominant OmpA variant

High-capacitance polyurethane ionogels for low-voltage operated organic transistors and pressure sensors

Sex and age differences in cognitive bias and neural activation in response to cognitive bias testing

Improved Electron Transport in Ambipolar Organic Field-Effect Transistors with PMMA/Polyurethane Blend Dielectrics

Low-voltage operated solid-state electrolyte-gated ambipolar organic field-effect transistors

Effect of vacuum metalized gate electrode in top-gate solid-state electrolyte-gated organic transistors

Exploring low-k dielectrics as structuring polymers for solid-state electrolyte-gated transistors

High performance p-type chlorinated-benzothiadiazole-based polymer electrolyte gated organic field-effect transistors

Antiplatelet Therapy of Cilostazol or Sarpogrelate with Aspirin and Clopidogrel after Percutaneous Coronary Intervention: A Retrospective Cohort Study Using the Korean National Health Insurance Claim Database

Single-Ventricle Outcomes After Neonatal Palliation of Severe Ebstein Anomaly With Modified Starnes Procedure

Neuroleptic malignant syndrome secondary to olanzapine, a presentation with severe acute kidney injury requiring hemodialysis: a case report

Correction: High-capacitance polyurethane ionogels for low-voltage operated organic transistors and pressure sensors

In vitro model of postoncosphere development, and in vivo infection abilities of Taenia solium and Taenia saginata

Abstract 20041: Single Ventricle Outcome Following Neonatal Palliation of Severe Ebstein’s Anomaly With Modified Starnes Procedure

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