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Catalytic Dinitrogen Reduction to Ammonia at a Triamidoamine–Titanium Complex

Angewandte Chemie International Edition, 2018-05, Vol.57 (21), p.6314-6318

International ed. in English, 2018

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Delivering an accredited non‐invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice

Prenatal diagnosis, 2018-01, Vol.38 (1), p.44-51

2018

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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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Child–Parent Familial Hypercholesterolemia Screening in Primary Care

The New England journal of medicine, 2016-10, Vol.375 (17), p.1628-1637

2016

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Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

Kidney international, 2018-04, Vol.93 (4), p.961-967

2018

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Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

Prenatal diagnosis, 2015-07, Vol.35 (7), p.656-662

2015

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Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

American journal of human genetics, 2018-12, Vol.103 (6), p.984-994

2018

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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Nature communications, 2017-02, Vol.8 (1), p.14279-15, Article 14279

2017

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The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

Prenatal diagnosis, 2013-06, Vol.33 (6), p.555-562

2013

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Clinical and molecular aspects of distal renal tubular acidosis in children

Pediatric nephrology (Berlin, West), 2017-06, Vol.32 (6), p.987-996

2017

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Patient decision aids in mainstreaming genetic testing for women with ovarian cancer: A prospective cohort study

BJOG : an international journal of obstetrics and gynaecology, 2024-05, Vol.131 (6), p.848-857

2024

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Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis

PloS one, 2017-07, Vol.12 (7), p.e0181874-e0181874

2017

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Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways

Prenatal diagnosis, 2016-07, Vol.36 (7), p.636-642

2016

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Cost-Effectiveness of Unselected Multigene Germline and Somatic Genetic Testing for Epithelial Ovarian Cancer

Journal of the National Comprehensive Cancer Network, 2024-04, p.1-9

2024

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GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

American journal of human genetics, 2005-12, Vol.77 (6), p.945-957

2005

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A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1 , and Skewed X-Inactivation

Genes, 2023-05, Vol.14 (6), p.1193

2023

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Aspirin for prevention of cancer and cardiovascular disease

British journal of general practice, 2011-06, Vol.61 (587), p.412-415

2011

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Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts

BMC medical genetics, 2013-08, Vol.14 (1), p.85-85, Article 85

2013

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Preface

Modern languages open, 2020-08, Vol.1

Jenkins, Lucy

2020

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Catalytic Dinitrogen Reduction to Ammonia at a Triamidoamine–Titanium Complex

Angewandte Chemie, 2018-05, Vol.130 (21), p.6422-6426

2018

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Prevalence and architecture of de novo mutations in developmental disorders

Nature (London), 2017-02, Vol.542 (7642), p.433-438

2017

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Implementing evidence in practice: do action lists work?

Education for primary care, 2012-01, Vol.23 (2), p.107-114

2012

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Catalytic Dinitrogen Reduction to Ammonia at a Triamidoamine–Titanium Complex

Delivering an accredited non‐invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice

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

Child–Parent Familial Hypercholesterolemia Screening in Primary Care

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

Clinical and molecular aspects of distal renal tubular acidosis in children

Patient decision aids in mainstreaming genetic testing for women with ovarian cancer: A prospective cohort study

Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis

Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways

Cost-Effectiveness of Unselected Multigene Germline and Somatic Genetic Testing for Epithelial Ovarian Cancer

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1 , and Skewed X-Inactivation

Aspirin for prevention of cancer and cardiovascular disease

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts

Preface

Catalytic Dinitrogen Reduction to Ammonia at a Triamidoamine–Titanium Complex

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Prevalence and architecture of de novo mutations in developmental disorders

Implementing evidence in practice: do action lists work?

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