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Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium

Cancer epidemiology, biomarkers & prevention, 2020-02, Vol.29 (2), p.368-378

2020

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A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

British journal of cancer, 2010-12, Vol.103 (12), p.1875-1884

2010

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Screening for Familial Ovarian Cancer: Failure of Current Protocols to Detect Ovarian Cancer at an Early Stage According to the International Federation of Gynecology and Obstetrics System

Journal of clinical oncology, 2005-08, Vol.23 (24), p.5588-5596

2005

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OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells

Journal of the American Society of Nephrology, 2003-03, Vol.14 (3), p.680-689

2003

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Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer

Clinical genetics, 2007-12, Vol.72 (6), p.551-555

2007

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Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation?

Journal of clinical pathology, 2001-03, Vol.54 (3), p.249-252

2001

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A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34

Nature genetics, 1994-02, Vol.6 (2), p.197-204

1994

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Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function

Human molecular genetics, 1995-10, Vol.4 (10), p.1983-1985

1995

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Cascade genetic testing for mismatch repair gene mutations

Familial cancer, 2008-12, Vol.7 (4), p.293-301

2008

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Short Report: Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer

Clinical genetics, 2007-12, Vol.72 (6), p.551

2007

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Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations

Human mutation, 1997, Vol.10 (4), p.280-289

1997

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Methods applied to neonatal dried blood spot samples for secondary research purposes: a scoping review

Critical reviews in clinical laboratory sciences, 2024-06, p.1-24

2024

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The effects of a neuregulin 1 variant on white matter density and integrity

Molecular psychiatry, 2008-11, Vol.13 (11), p.1054-1059

2008

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Alzheimer's disease susceptibility genes APOE and TOMM40 , and brain white matter integrity in the Lothian Birth Cohort 1936

Neurobiology of aging, 2014-06, Vol.35 (6), p.1513.e25-1513.e33

2014

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Liposome-mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis

Nature medicine, 1995-01, Vol.1 (1), p.39-46

1995

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Adenoviral Augmentation of Elafin Protects the Lung Against Acute Injury Mediated by Activated Neutrophils and Bacterial Infection

The Journal of immunology (1950), 2001-08, Vol.167 (3), p.1778-1786

2001

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Elevated plasma angiopoietin-2 levels and primary graft dysfunction after lung transplantation

PloS one, 2012-12, Vol.7 (12), p.e51932-e51932

2012

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An updated assessment of trends and variability in total and extreme rainfall in the western Pacific

International journal of climatology, 2014-06, Vol.34 (8), p.2775-2791

2014

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Excuse me, there is an 'elephant in the room'

SAMJ: South African Medical Journal, 2013-06, Vol.103 (6), p.354-355

Porteous, Paul

2013

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Segmentation of the anterior thalamic radiation using neighbourhood tractography

Molecular psychiatry, 2009-03, Vol.14 (3), p.233-233

2009

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Dependence of fertility on kisspeptin–Gpr54 signaling at the GnRH neuron

Nature communications, 2013-09, Vol.4 (1), Article 2492

2013

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A novel atypical 22q11.2 distal deletion in father and son

Journal of medical genetics, 2002-10, Vol.39 (10), p.e62-62

2002

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Splinkerettes—improved vectorettes for greater efficiency in PCR walking

Nucleic acids research, 1995-05, Vol.23 (9), p.1644-1645

1995

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Cohort Profile: COVIDMENT: COVID-19 cohorts on mental health across six nations

International journal of epidemiology, 2021

2021

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The Relationship of Anterior Thalamic Radiation Integrity to Psychosis Risk Associated Neuregulin-1 Variants

NeuroImage (Orlando, Fla.), 2009-07, Vol.47, p.S127-S127

2009

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Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium

A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

Screening for Familial Ovarian Cancer: Failure of Current Protocols to Detect Ovarian Cancer at an Early Stage According to the International Federation of Gynecology and Obstetrics System

OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells

Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer

Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation?

A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34

Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function

Cascade genetic testing for mismatch repair gene mutations

Short Report: Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer

Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations

Methods applied to neonatal dried blood spot samples for secondary research purposes: a scoping review

The effects of a neuregulin 1 variant on white matter density and integrity

Alzheimer's disease susceptibility genes APOE and TOMM40 , and brain white matter integrity in the Lothian Birth Cohort 1936

Liposome-mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis

Adenoviral Augmentation of Elafin Protects the Lung Against Acute Injury Mediated by Activated Neutrophils and Bacterial Infection

Elevated plasma angiopoietin-2 levels and primary graft dysfunction after lung transplantation

An updated assessment of trends and variability in total and extreme rainfall in the western Pacific

Excuse me, there is an 'elephant in the room'

Segmentation of the anterior thalamic radiation using neighbourhood tractography

Dependence of fertility on kisspeptin–Gpr54 signaling at the GnRH neuron

A novel atypical 22q11.2 distal deletion in father and son

Splinkerettes—improved vectorettes for greater efficiency in PCR walking

Cohort Profile: COVIDMENT: COVID-19 cohorts on mental health across six nations

The Relationship of Anterior Thalamic Radiation Integrity to Psychosis Risk Associated Neuregulin-1 Variants

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