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Validation of a questionnaire for assessment of asthma patient knowledge and behaviour

Allergy, 2009-01, Vol.64 (1), p.62-71

2009

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Structure-activity relationship study of biflavonoids on the Dengue virus polymerase DENV-NS5 RdRp

Planta medica, 2013-09, Vol.79 (14), p.1313-1318

2013

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Antiviral activity of the natural alkaloid anisomycin against dengue and Zika viruses

Antiviral research, 2020-04, Vol.176, p.104749-104749, Article 104749

2020

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De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

American journal of human genetics, 2017-08, Vol.101 (2), p.300-310

2017

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Biflavonoids of Dacrydium balansae with potent inhibitory activity on dengue 2 NS5 polymerase

Planta medica, 2012-05, Vol.78 (7), p.672-677

2012

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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

American journal of human genetics, 2017-07, Vol.101 (1), p.65-74

2017

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P6210Pathway of care and life course of patients with recurrent ST-elevation myocardial infarction

European heart journal, 2019-10, Vol.40 (Supplement_1)

2019

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SETD1B -associated neurodevelopmental disorder

Journal of medical genetics, 2021-03, Vol.58 (3), p.196-204

2021

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Mutations in EZH2 Cause Weaver Syndrome

American journal of human genetics, 2012-01, Vol.90 (1), p.110-118

2012

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The Eμ-Ret mouse is a novel model of hyperdiploid B-cell acute lymphoblastic leukemia

Leukemia, 2024-05, Vol.38 (5), p.969-980

2024

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Control of n-alkanes crystallization by ethylene–vinyl acetate copolymers

Journal of colloid and interface science, 2005-10, Vol.290 (2), p.406-418

2005

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Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Frontiers in neurology, 2019-05, Vol.10, p.434-434

2019

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Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide

Journal of child neurology, 2019-10, Vol.34 (12), p.728-734

2019

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P.057 Next-generation sequencing to determine a genetic cause of familial intracranial aneurysms

Canadian journal of neurological sciences, 2017-06, Vol.44 (S2), p.S27-S27

2017

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Human Methionine Synthase: cDNA Cloning and Identification of Mutations in Patients of the cblG Complementation Group of Folate/Cobalamin Disorders

Human molecular genetics, 1996-12, Vol.5 (12), p.1867-1874

1996

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MG-127 Diagnostic accuracy of chromosome microarray in children with epilepsy and neurological abnormalities of unknown aetiology

Journal of medical genetics, 2015-11, Vol.52 (Suppl 1), p.A7-A7

2015

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Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

Orphanet journal of rare diseases, 2016-05, Vol.11 (1), p.62, Article 62

2016

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MG-115 Compound heterozygous SCN4A mutation underlies severe congenital hypotonia and biophysical alteration in the encoded voltage-gated NAV1.4 sodium channel

Journal of medical genetics, 2015-11, Vol.52 (Suppl 1), p.A3-A4

2015

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A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy

Molecular genetics and metabolism, 2006-09, Vol.89 (1), p.129-133

2006

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Accelerating small compounds discovery targeting protein-protein interaction

The FEBS journal, 2015-07, Vol.282 (1, SI)

2015

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Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis

The Lancet (British edition), 1998-01, Vol.351 (9098), p.242-247

1998

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A.01 Targeted analysis of whole exome sequencing and genotype-phenotype correlation in epileptic encephalopathies

Canadian journal of neurological sciences, 2016-06, Vol.43 (S2), p.S7-S7

2016

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Settling of paraffin crystals in cooled middle distillate fuels

Journal of colloid and interface science, 2004-01, Vol.269 (1), p.117-125

2004

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Characterization of Four Novel Epithelial Ovarian Cancer Cell Lines

In vitro cellular & developmental biology. Animal, 2000-06, Vol.36 (6), p.357-361

2000

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The Controlled Solvolysis of Ethylene−Vinyl Acetate Copolymers

Macromolecules, 2001-08, Vol.34 (17), p.5838-5847

2001

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Validation of a questionnaire for assessment of asthma patient knowledge and behaviour

Structure-activity relationship study of biflavonoids on the Dengue virus polymerase DENV-NS5 RdRp

Antiviral activity of the natural alkaloid anisomycin against dengue and Zika viruses

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

Biflavonoids of Dacrydium balansae with potent inhibitory activity on dengue 2 NS5 polymerase

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

P6210Pathway of care and life course of patients with recurrent ST-elevation myocardial infarction

SETD1B -associated neurodevelopmental disorder

Mutations in EZH2 Cause Weaver Syndrome

The Eμ-Ret mouse is a novel model of hyperdiploid B-cell acute lymphoblastic leukemia

Control of n-alkanes crystallization by ethylene–vinyl acetate copolymers

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide

P.057 Next-generation sequencing to determine a genetic cause of familial intracranial aneurysms

Human Methionine Synthase: cDNA Cloning and Identification of Mutations in Patients of the cblG Complementation Group of Folate/Cobalamin Disorders

MG-127 Diagnostic accuracy of chromosome microarray in children with epilepsy and neurological abnormalities of unknown aetiology

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

MG-115 Compound heterozygous SCN4A mutation underlies severe congenital hypotonia and biophysical alteration in the encoded voltage-gated NAV1.4 sodium channel

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy

Accelerating small compounds discovery targeting protein-protein interaction

Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis

A.01 Targeted analysis of whole exome sequencing and genotype-phenotype correlation in epileptic encephalopathies

Settling of paraffin crystals in cooled middle distillate fuels

Characterization of Four Novel Epithelial Ovarian Cancer Cell Lines

The Controlled Solvolysis of Ethylene−Vinyl Acetate Copolymers

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