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110 results on '"Bernier, Francois"'

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1. 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

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

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

5. Developing a Framework of Cost Elements of Socioeconomic Burden of Rare Disease: A Scoping Review

13. 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

14. The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence

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

21. Targeting Impaired Antimicrobial Immunity in the Brain for the Treatment of Alzheimer’s Disease

24. De novo variants in MPP5 cause global developmental delay and behavioral changes

25. Automated syndrome diagnosis by three-dimensional facial imaging

29. Channelopathies are a frequent cause of genetic ataxias associated with cerebellar atrophy (1719)

36. The developmental-genetics of canalization

39. Tales from Two Cohots

40. Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

41. Advancing Concussion Assessment in Pediatrics (A-CAP): a prospective, concurrent cohort, longitudinal study of mild traumatic brain injury in children: protocol study

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

49. Cover Image, Volume 170A, Number 5, May 2016

50. Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

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