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Publications by Marie‐José T. H. Goumans

Pathogenic Effect of a TGFBR1 Mutation in a Family With Loeys–Dietz Syndrome

Molecular genetics & genomic medicine

Molecular Biology

English

Related publications

Aortic Aneurysms in Loeys-Dietz Syndrome — A Tale of Two Pathways?

Journal of Clinical Investigation

English

Severity of Oro-Dental Anomalies in Loeys-Dietz Syndrome Segregates by Gene Mutation

Journal of Medical Genetics

English

Loeys-Dietz Syndrome: A Possible Solution for Akhenaten’s and His Family’s Mystery Syndrome

South African Medical Journal

English

Unique Mechanism by Which TGFBR1 Variants Cause 2 Distinct System Diseases ― Loeys-Dietz Syndrome and Multiple Self-Healing Squamous Epithelioma ―

Circulation Reports

English

Clinical Features and Genetic Analysis of Korean Patients With Loeys–Dietz Syndrome

Journal of Human Genetics

English

Postoperative Adrenal Crisis in an Adolescent With Loeys-Dietz Syndrome and Undiagnosed Adrenoleukodystrophy

Canadian Journal of Anaesthesia

English

Pregnancy With Loeys Dietz: Care Informed by Case Series

BJOG: An International Journal of Obstetrics and Gynaecology

English

Loeys-Dietz: Anything Special for Tomorrow’s Case?

Journal of Thoracic and Cardiovascular Surgery

Respiratory Medicine

Cardiovascular Medicine

English

Maternal and Fetal Outcomes in Pregnancies Complicated by the Inherited Aortopathy Loeys Dietz Syndrome

BJOG: An International Journal of Obstetrics and Gynaecology

English