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Helen Malherbe

Has grant

Extraordinary Associate Professor

North-West University

South Africa

Research Interests

Recent Grants

Grant: Close

Genetic Testing - Unravelling DNA to Improve Health

Open Date: 2020-10-01

Close Date: 2021-04-01

Grant: Close

Participation in 46th Annual Meeting of ICBDSR 2019

Open Date: 2019-09-01

Close Date: 2019-09-01

Grant: Close

Conference travel funds (ICBD 2017)

Open Date: 2017-11-01

Close Date:

Articles (18)

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2026

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2026

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2026

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2026

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2026

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2025

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2024

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2024

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2024

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2024

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2024

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2024

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2024

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2024

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2023

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2023

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2023

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2023

Collaborators (8)

Marco Zampoli

Paediatric Pulmonologist

University of Cape Town

SOUTH AFRICA

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Mary Ann Thomas

Professor

University of Calgary

CANADA

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Michael Urban

Principal Pathologist and Head of Clinical Services

University of Witwatersrand

SOUTH AFRICA

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Sally Ann Lynch

IRELAND

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Colleen Aldous

University of KwaZulu-Natal

SOUTH AFRICA

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Lorenzo Botto

Professor

University of Utah

UNITED STATES

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Christopher McMaster

Professor

Dalhousie University

CANADA

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Peter Schielen

senior scientist/senior advisor

National Institute for Public Health and the Environment

NETHERLANDS

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Helen Malherbe

Research Interests

Recent Grants

Articles (18)

51st annual meeting of ICBDSR: data that counts - transforming lives through birth defects surveillance

The estimated burden of rare diseases in South Africa using Orphanet: an epidemiological analysis

Opportunities and Challenges for Surveillance of Congenital Anomalies in Sub‐Saharan Africa

Rare diseases as a global priority: the CIS Orphan Forum and the path toward collaboration with BRICS

Adverse events experienced by people living with chronic rare diseases: A scoping review

From past to progress: a retrospective study on <i>CFTR</i> genetic testing in South Africa

Advancing diagnosis and research for rare genetic diseases in Indigenous peoples

Newborn screening in South Africa: the past, present, and plans for the future

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

A Capacity Audit of Medical Geneticists and Genetic Counsellors in South Africa, 2024: A National Crisis

Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on genetics

Patient organizations: advocating for timely newborn screening & improved quality of life

Status of prevention of neural tube defects post-folic acid fortification of cereal grains in South Africa

The impact of COVID-19 on patients affected by rare diseases and congenital disorders in South Africa: A scoping review

Introducing the South African Rare Diseases Access Initiative

The burden, prevention and care of infants and children with congenital anomalies in sub-Saharan Africa: A scoping review

A review of key terminology and definitions used for birth defects globally

The Risk of Orofacial Cleft Lip/Palate Due to Maternal Ambient Air Pollution Exposure: A Call for Further Research in South Africa

Collaborators (8)

Marco Zampoli

Mary Ann Thomas

Michael Urban

Sally Ann Lynch

Colleen Aldous

Lorenzo Botto

Christopher McMaster

Peter Schielen

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