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Your search keyword '"Bernier, Francois"' showing total 30 results

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30 results on '"Bernier, Francois"'

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1. An interactive atlas of three-dimensional syndromic facial morphology.

2. Comparing 2D and 3D representations for face-based genetic syndrome diagnosis.

3. Detecting 3D syndromic faces as outliers using unsupervised normalizing flow models.

4. A Deep Invertible 3-D Facial Shape Model for Interpretable Genetic Syndrome Diagnosis

6. Genetics providers’ perspectives on the use of digital tools in clinical practice

7. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

9. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

13. Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada

15. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

17. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

18. Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach.

21. A second update on mapping the human genetic architecture of COVID-19

24. Effect of Probiotic Bifidobacterium breve in Improving Cognitive Function and Preventing Brain Atrophy in Older Patients with Suspected Mild Cognitive Impairment: Results of a 24-Week Randomized, Double-Blind, Placebo-Controlled Trial

25. Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada

26. Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery.

28. Genetics providers’ perspectives on the use of digital tools in clinical practice

30. Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations.

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