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A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

The Journal of experimental medicine, 2022-06, Vol.219 (6)

2022

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Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

JAMA : the journal of the American Medical Association, 2020-06, Vol.323 (24), p.2503

2020

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Screening a screened result–method or madness?

Pathology, 2017-02, Vol.49, p.S31-S31

2017

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Analysis of C9orf72 hexanucleotide repeat expansions in SOD1 negative patients with amyotrophic lateral sclerosis

Pathology, 2015, Vol.47, p.S27-S27

Chan, Cheng Yee

2015

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A managed variant list for Canterbury Health Laboratories' clinical exome sequencing project

New Zealand journal of medical laboratory science, 2022-11, Vol.76 (3)

2022

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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Journal of medical genetics, 2014-10, Vol.51 (10), p.659-668

2014

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A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

The Journal of experimental medicine, 2022-06, Vol.219 (6)

2022

Volltextzugriff (PDF)

Finding gold in feingold syndrome-2

Pathology, 2018-02, Vol.50, p.S29-S29

2018

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Indications and outcomes of rapid turn around time whole exome sequencing studies

Pathology, 2020-02, Vol.52, p.S29-S29

2020

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Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome

Journal of clinical immunology, 2018-04, Vol.38 (3), p.234-236

2018

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Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome

Journal of clinical immunology, 2018, Vol.38 (3), p.234-236

2018

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Application of droplet digital polymerase chain reaction of plasma methylated septin 9 on detection and early monitoring of colorectal cancer

Scientific reports, 2021-12, Vol.11 (1), p.23446-23446, Article 23446

2021

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Retinal Nerve Fiber Layer Measurements in Myopia: An Optical Coherence Tomography Study

Investigative ophthalmology & visual science, 2006-12, Vol.47 (12), p.5171-5176

2006

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Clinical Outcomes of Extended Versus Intermittent Infusion of Piperacillin/Tazobactam in Critically Ill Patients: A Prospective Clinical Trial

Pharmacotherapy, 2017-01, Vol.37 (1), p.109-119

2017

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DNA Methylation as a Noninvasive Epigenetic Biomarker for the Detection of Cancer

Disease markers, 2017-01, Vol.2017, p.3726595-13

2017

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Utility of a smartphone application in assessing palmar circulation prior to radial artery harvesting for coronary artery bypass grafting: rationale and design of the randomised CAPITAL iRADIAL-CABG trial

BMJ open, 2022-04, Vol.12 (4), p.e055580-e055580

2022

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Long term survival in patients with human papillomavirus-positive oropharyngeal cancer and equivocal response on 12-week PET-CT is not compromised by the omission of neck dissection

Oral oncology, 2022-05, Vol.128, p.105870-105870, Article 105870

2022

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Suicide ideation in older people: a qualitative review and Meta-aggregation of Asian studies

Frontiers in psychiatry, 2023-08, Vol.14, p.1169820-1169820

2023

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What is the Hand Washing Performance in Foreign Domestic Helpers in Hong Kong?

American journal of infection control, 2017-06, Vol.45 (6), p.S64-S64

2017

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Impact of atrial fibrillation on the risk of major adverse cardiac events following coronary revascularisation

Open heart, 2022-09, Vol.9 (2), p.e002012

2022

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Assessing the Short-Term Efficacy of Digital Cognitive Behavioral Therapy for Insomnia With Different Types of Coaching: Randomized Controlled Comparative Trial

JMIR mental health, 2024-08, Vol.11, p.e51716

2024

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Long-term survival of nasopharyngeal carcinoma following concomitant radiotherapy and chemotherapy

International journal of radiation oncology, biology, physics, 2000-12, Vol.48 (5), p.1323-1330

2000

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Design of InnoPrimers-Duplex Real-Time PCR for Detection and Treatment Response Prediction of EBV-Associated Nasopharyngeal Carcinoma Circulating Genetic Biomarker

Diagnostics (Basel), 2021-09, Vol.11 (10), p.1761

2021

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Prognostic significance of parapharyngeal space venous plexus and marrow involvement: Potential landmarks of dissemination for stage I-III nasopharyngeal carcinoma

International journal of radiation oncology, biology, physics, 2005-02, Vol.61 (2), p.456-465

2005

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Examining prognostic factors and patterns of failure in nasopharyngeal carcinoma following concomitant radiotherapy and chemotherapy: impact on future clinical trials

International journal of radiation oncology, biology, physics, 2001-07, Vol.50 (3), p.717-726

2001

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A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Screening a screened result–method or madness?

Analysis of C9orf72 hexanucleotide repeat expansions in SOD1 negative patients with amyotrophic lateral sclerosis

A managed variant list for Canterbury Health Laboratories' clinical exome sequencing project

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

Finding gold in feingold syndrome-2

Indications and outcomes of rapid turn around time whole exome sequencing studies

Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome

Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome

Application of droplet digital polymerase chain reaction of plasma methylated septin 9 on detection and early monitoring of colorectal cancer

Retinal Nerve Fiber Layer Measurements in Myopia: An Optical Coherence Tomography Study

Clinical Outcomes of Extended Versus Intermittent Infusion of Piperacillin/Tazobactam in Critically Ill Patients: A Prospective Clinical Trial

DNA Methylation as a Noninvasive Epigenetic Biomarker for the Detection of Cancer

Utility of a smartphone application in assessing palmar circulation prior to radial artery harvesting for coronary artery bypass grafting: rationale and design of the randomised CAPITAL iRADIAL-CABG trial

Long term survival in patients with human papillomavirus-positive oropharyngeal cancer and equivocal response on 12-week PET-CT is not compromised by the omission of neck dissection

Suicide ideation in older people: a qualitative review and Meta-aggregation of Asian studies

What is the Hand Washing Performance in Foreign Domestic Helpers in Hong Kong?

Impact of atrial fibrillation on the risk of major adverse cardiac events following coronary revascularisation

Assessing the Short-Term Efficacy of Digital Cognitive Behavioral Therapy for Insomnia With Different Types of Coaching: Randomized Controlled Comparative Trial

Long-term survival of nasopharyngeal carcinoma following concomitant radiotherapy and chemotherapy

Design of InnoPrimers-Duplex Real-Time PCR for Detection and Treatment Response Prediction of EBV-Associated Nasopharyngeal Carcinoma Circulating Genetic Biomarker

Prognostic significance of parapharyngeal space venous plexus and marrow involvement: Potential landmarks of dissemination for stage I-III nasopharyngeal carcinoma

Examining prognostic factors and patterns of failure in nasopharyngeal carcinoma following concomitant radiotherapy and chemotherapy: impact on future clinical trials

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