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ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance

Genetics in medicine, 2022-02, Vol.24 (2), p.463-474

2022

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Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals

Clinical genetics, 2021-09, Vol.100 (3), p.292-297

2021

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Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

Clinical genetics, 2019-04, Vol.95 (4), p.496-506

2019

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Further delineation of phenotypic spectrum of SCN2A‐related disorder

American journal of medical genetics. Part A, 2022-03, Vol.188 (3), p.867-877

2022

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Is 15q11.2 microdeletion associated with periventricular nodular heterotopia?

Clinical dysmorphology, 2015-10, Vol.24 (4), p.156

2015

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Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

The New England journal of medicine, 2023-04, Vol.388 (17), p.1559-1571

2023

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De novo variants in KCNA3 cause developmental and epileptic encephalopathy

Annals of neurology, 2024-02, Vol.95 (2), p.365-376

2024

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Oxidative stress and pathology in muscular dystrophies: focus on protein thiol oxidation and dysferlinopathies

The FEBS journal, 2013-09, Vol.280 (17), p.4149-4164

2013

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Biomarkers for Duchenne muscular dystrophy: myonecrosis, inflammation and oxidative stress

Disease models & mechanisms, 2020-03, Vol.13 (2), p.dmm043638

2020

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Mental health professionals' experiences of working with parents with psychosis and their families: a qualitative study

BMC health services research, 2021-04, Vol.21 (1), p.393-393, Article 393

2021

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Parental health in the context of public care proceedings: a scoping review of evidence and interventions

The Lancet (British edition), 2022-11, Vol.400, p.S42-S42

2022

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Sociodemographic characteristics associated with parenthood amongst patients with a psychotic diagnosis: a cross-sectional study using patient clinical records

Social Psychiatry and Psychiatric Epidemiology, 2022-09, Vol.57 (9), p.1897-1906

2022

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Do observational studies using propensity score methods agree with randomized trials? A systematic comparison of studies on acute coronary syndromes

European heart journal, 2012-08, Vol.33 (15), p.1893-1901

2012

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Parenting interventions for people with schizophrenia or related serious mental illness

Cochrane database of systematic reviews, 2021-10, Vol.10 (10), p.CD013536-CD013536

2021

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The Needs and Experiences of Parents with Psychosis: A Qualitative Interview Study

Journal of child and family studies, 2023-08, Vol.32 (8), p.2431-2443

2023

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Lipid Accumulation in Dysferlin-Deficient Muscles

The American journal of pathology, 2014-06, Vol.184 (6), p.1668-1676

2014

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Parenting and psychosis: An experience sampling methodology study investigating the inter‐relationship between stress from parenting and positive psychotic symptoms

British journal of clinical psychology, 2022-11, Vol.61 (4), p.1236-1258

2022

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N -Acetylcysteine treatment of dystrophic mdx mice results in protein thiol modifications and inhibition of exercise induced myofibre necrosis

Neuromuscular disorders : NMD, 2012-05, Vol.22 (5), p.427-434

2012

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Parental health in the context of public family care proceedings: A scoping review of evidence and interventions

Child abuse & neglect, 2023-06, Vol.140, p.106160-106160, Article 106160

2023

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Parenting interventions for people with schizophrenia or related serious mental illness

Cochrane database of systematic reviews, 2020-02, Vol.2020 (2)

2020

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A Scoping Review of Interventions Designed to Support Parents With Mental Illness That Would Be Appropriate for Parents With Psychosis

Frontiers in psychiatry, 2022-01, Vol.12, p.787166-787166

2022

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A family perspective on parental psychosis: An interpretative phenomenological analysis study

Psychology and psychotherapy, 2023-06, Vol.96 (2), p.347-363

2023

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A single 30min treadmill exercise session is suitable for ‘proof-of concept studies’ in adult mdx mice: A comparison of the early consequences of two different treadmill protocols

Neuromuscular disorders : NMD, 2012-02, Vol.22 (2), p.170-182

2012

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A single 30 min treadmill exercise session is suitable for ‘proof-of concept studies’ in adult mdx mice: A comparison of the early consequences of two different treadmill protocols

Neuromuscular disorders : NMD, 2012-02, Vol.22 (2), p.170-182

2012

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ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance

Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

Further delineation of phenotypic spectrum of SCN2A‐related disorder

Is 15q11.2 microdeletion associated with periventricular nodular heterotopia?

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

De novo variants in KCNA3 cause developmental and epileptic encephalopathy

Oxidative stress and pathology in muscular dystrophies: focus on protein thiol oxidation and dysferlinopathies

Biomarkers for Duchenne muscular dystrophy: myonecrosis, inflammation and oxidative stress

Mental health professionals' experiences of working with parents with psychosis and their families: a qualitative study

Parental health in the context of public care proceedings: a scoping review of evidence and interventions

Sociodemographic characteristics associated with parenthood amongst patients with a psychotic diagnosis: a cross-sectional study using patient clinical records

Do observational studies using propensity score methods agree with randomized trials? A systematic comparison of studies on acute coronary syndromes

Parenting interventions for people with schizophrenia or related serious mental illness

The Needs and Experiences of Parents with Psychosis: A Qualitative Interview Study

Lipid Accumulation in Dysferlin-Deficient Muscles

Parenting and psychosis: An experience sampling methodology study investigating the inter‐relationship between stress from parenting and positive psychotic symptoms

N -Acetylcysteine treatment of dystrophic mdx mice results in protein thiol modifications and inhibition of exercise induced myofibre necrosis

Parental health in the context of public family care proceedings: A scoping review of evidence and interventions

Parenting interventions for people with schizophrenia or related serious mental illness

A Scoping Review of Interventions Designed to Support Parents With Mental Illness That Would Be Appropriate for Parents With Psychosis

A family perspective on parental psychosis: An interpretative phenomenological analysis study

A single 30min treadmill exercise session is suitable for ‘proof-of concept studies’ in adult mdx mice: A comparison of the early consequences of two different treadmill protocols

The Phenotypic Continuum of ATP1A3 -Related Disorders

A single 30 min treadmill exercise session is suitable for ‘proof-of concept studies’ in adult mdx mice: A comparison of the early consequences of two different treadmill protocols

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