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Adenovirus 12 E4orf6 inhibits ATR activation by promoting TOPBP1 degradation

Proceedings of the National Academy of Sciences - PNAS, 2010-07, Vol.107 (27), p.12251-12256

2010

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Serotype-Specific Inactivation of the Cellular DNA Damage Response during Adenovirus Infection

Journal of Virology, 2011-03, Vol.85 (5), p.2201-2211

2011

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Adenovirus E4orf3 Targets Transcriptional Intermediary Factor 1γ for Proteasome-Dependent Degradation during Infection

Journal of Virology, 2012-03, Vol.86 (6), p.3167-3179

2012

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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

The Lancet (British edition), 2019-02, Vol.393 (10173), p.747-757

2019

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Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability

BMC medical genetics, 2015-09, Vol.16 (1), p.84-84, Article 84

2015

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Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case

Neuromuscular disorders : NMD, 2018-12, Vol.28 (12), p.1016-1021

2018

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A rare case of adult onset LPIN1 associated rhabdomyolysis

Neuromuscular disorders : NMD, 2020-03, Vol.30 (3), p.241-245

2020

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Validation of the familial chylomicronaemia syndrome (FCS) score in an ethnically diverse cohort from UK FCS registry: Implications for diagnosis and differentiation from multifactorial chylomicronaemia syndrome (MCS)

Atherosclerosis, 2024-04, Vol.391, p.117476-117476, Article 117476

2024

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Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

Pediatric nephrology (Berlin, West), 2022-11, Vol.37 (11), p.2643-2656

2022

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Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants

Journal of neuromuscular diseases, 2020-01, Vol.7 (2), p.137-143

2020

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The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs)

Human mutation, 2006-07, Vol.27 (7), p.716-716

2006

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Marked oestrous cycle-dependent regulation of rat arterial K V 7.4 channels driven by GPER1

British journal of pharmacology, 2023-01, Vol.180 (2), p.174-193

2023

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Marked oestrous cycle‐dependent regulation of rat arterial KV7.4 channels driven by GPER1

British journal of pharmacology, 2023-01, Vol.180 (2), p.174-193

2023

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A Conceptual Framework to Describe Energy Efficiency and Demand Response Interactions

Energies (Basel), 2020-09, Vol.13 (17), p.4336

2020

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Manual laterality and cognition through evolution: An archeological perspective

Progress in brain research, 2018, Vol.238, p.295-323

2018

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Abstract 4202: Genetic re-programming of the AML cell line HL-60 during differentiation: Roles of the EGR/NAB and NR4A transcription factors

Cancer research (Chicago, Ill.), 2012-04, Vol.72 (8_Supplement), p.4202-4202

2012

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Abstract 5449: Defining the transcription regulatory network in differentiating human acute myeloid leukemia cells

Cancer research (Chicago, Ill.), 2013-04, Vol.73 (8_Supplement), p.5449-5449

2013

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Notes from the field: update on Lyme carditis, groups at high risk, and frequency of associated sudden cardiac death--United States

MMWR. Morbidity and mortality weekly report, 2014-10, Vol.63 (43), p.982-983

2014

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Update on Lyme Carditis, Groups at High Risk, and Frequency of Associated Sudden Cardiac Death — United States

MMWR. Morbidity and mortality weekly report, 2014-10, Vol.63 (43), p.982-983

2014

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Perfusion is Not Measurably Decreased in Idiopathic Clubfoot

Bulletin of the NYU Hospital for Joint Diseases, 2018-07, Vol.76 (3), p.203-206

2018

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Adenovirus 12 E4orf6 inhibits ATR activation by promoting TOPBP1 degradation

Serotype-Specific Inactivation of the Cellular DNA Damage Response during Adenovirus Infection

Adenovirus E4orf3 Targets Transcriptional Intermediary Factor 1γ for Proteasome-Dependent Degradation during Infection

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability

Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case

A rare case of adult onset LPIN1 associated rhabdomyolysis

Validation of the familial chylomicronaemia syndrome (FCS) score in an ethnically diverse cohort from UK FCS registry: Implications for diagnosis and differentiation from multifactorial chylomicronaemia syndrome (MCS)

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure

Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants

The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs)

Marked oestrous cycle-dependent regulation of rat arterial K V 7.4 channels driven by GPER1

Marked oestrous cycle‐dependent regulation of rat arterial KV7.4 channels driven by GPER1

A Conceptual Framework to Describe Energy Efficiency and Demand Response Interactions

Manual laterality and cognition through evolution: An archeological perspective

Abstract 4202: Genetic re-programming of the AML cell line HL-60 during differentiation: Roles of the EGR/NAB and NR4A transcription factors

Abstract 5449: Defining the transcription regulatory network in differentiating human acute myeloid leukemia cells

Fall - Fallgeschichte - Fallstudie: Theorie und Geschichte einer Wissensform

Real World Patterns of Antimicrobial Use and Microbiology Investigations in Patients with Sepsis outside the Critical Care Unit: Secondary Analysis of Three Nation-Wide Point Prevalence Studies

Notes from the field: update on Lyme carditis, groups at high risk, and frequency of associated sudden cardiac death--United States

Update on Lyme Carditis, Groups at High Risk, and Frequency of Associated Sudden Cardiac Death — United States

Perfusion is Not Measurably Decreased in Idiopathic Clubfoot

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