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CHEO Registers Tenth Patient in AMO Reach CDM Clinical Trial
…children and adolescents 6-16 years of age with Congenital DM1. On completion of the REACH CDM study, all patients have the opportunity to transition to the REACH CDM X study,…
Read MoreEurope comes to Canada as Lochmüller Lab hosts the annual meeting of the ProDGNE consortium
…Commission (EC) under the Horizon 2020 EJP-COFUND action and from national funding organisations. The Canadian contribution is funded by the Canadian Institutes of Health Research – Institute of Genetics. …
Read MoreNew publication on the latest expansion of the human phenotype ontology
We are delighted to have played a role in this new paper on the continued development and expansion of the human phenotype ontology. This comprehensive and interoperable vocabulary of phenotypic…
Read MoreDr. Hanns Lochmüller Awarded “Researcher of the Year” by University of Ottawa and The Ottawa Hospital Department of Medicine
…was nominated by Dr Grant Stotts, head of the Division of Neurology, for his productivity in clinical and basic research, his recognition globally in the neuromuscular field, and his leadership…
Read MoreCongenital myasthenic syndromes
…exome sequencing, and part of our research focuses on gene discovery to solve these remaining unsolved cases through the latest genome sequencing and multi-omics approaches. In many cases the pathomechanisms…
Read MoreNew Publication: SMArtCARE – A platform to collect real-life outcome data of patients with spinal muscular atrophy
…and care, and to provide outcome data to regulators, payers, and the SMA community. Methods: Within SMArtCARE, we conduct a prospective, multicenter non-randomized registration and outcome study. SMArtCARE collects longitudinal…
Read MoreProDGNE: Research Project to Develop an Innovative Therapeutic Compound to Treat GNE Myopathy
…(Portugal) DFG – German Research Foundation (Germany); MUR – Ministry of Universities and Research (Italy) CIHR – Canadian Institutes of Health Research – Institute of Genetics (Canada) INSERM (France) If…
Read MoreMeet the lab’s three new members
…in neuromuscular disorders and neurogenetics. His PhD work involved developing next generation sequencing (NGS)-based tests for detection of both copy number variations and point mutations in Duchenne Muscular Dystrophy. He…
Read MoreMalaichamy Sivasankar
…Molecular Medicine at the University of Ottawa under the supervision of Dr. Lochmüller, where he is elated to research on exploring novel genes and mechanisms implicated in undiagnosed neuromuscular disorders….
Read MoreNMD4C Receives Network Grant from CIHR-IMHA and Funding from MDC
…neuromuscular stakeholders, bringing together an unparalleled concentration of NMD expertise to provide a Canada-wide platform for communication, collaboration, and best-practice sharing. We’re very grateful to CIHR-IMHA and to MDC for…
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