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List of works by Danielle K Bourque

A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.

scientific article published on 21 October 2017

Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1

scientific article published on 09 May 2019

Characterization of the vaginal microbiota of healthy Canadian women through the menstrual cycle

scientific article

Decreased Placental Methylation at the H19/IGF2 Imprinting Control Region is Associated with Normotensive Intrauterine Growth Restriction but not Preeclampsia

scientific article published on 08 January 2010

Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis

scientific article published on 05 March 2019

Periodic breathing in patients with NALCN mutations

scientific article published on 03 July 2018

The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders

article

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