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Your search keyword '"Bernier, Francois"' showing total 460 results

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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

10. Automated syndrome diagnosis by three-dimensional facial imaging.

11. Fully Automatic Landmarking of Syndromic 3D Facial Surface Scans Using 2D Images.

12. The developmental-genetics of canalization

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

21. 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

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

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

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

45. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

48. 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

49. Evolution of a Novel Phenolic Pathway for Pollen Development

50. TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

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