Isabelle De Bie

7PUBLICATIONS
95CO-AUTHORS
Gene mappingNeurogeneticsNeonatologyNeurology and neuromuscular diseasesInfant and child health
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Publications (7)

|Aug 24, 2025
Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.

Ritu B Aul, Karen Elizabeth Canales, Isabelle De Bie

|Dec 23, 2024
Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.

Alexa McAdam, Yoko A Ito, Marilyn Richard

|Aug 31, 2024
PRKAG2 -Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review.

Alexandre M White-Brown, Marilyn Richard, Anne-Maude Morency

|Jan 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske van Woerden

|Oct 27, 2023
A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case.

Valérie Larouche, Marie-Frédérique Paré, Pierre-Olivier Grenier

|Apr 18, 2020
The incidence and carrier frequency of Tay-Sachs disease in the French-Canadian population of Quebec based on retrospective data from 24 years, 1992-2015.

Guillaume Sillon, Pierre Allard, Stella Drury

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Frequent Collaborators

1 joint publications

Shuaa Basalom

1 joint publications

Yannis Trakadis

1 joint publications

Guillaume Sillon

1 joint publications

Valérie Larouche