Clinical Information Required by Testing Labs

James Weber, PhD
@ 12:30 pm

Presenter: James Weber, PhD Learning Objectives: Discuss evidence supporting the increase in ES/GS diagnostic yield with provision of thorough phenotypic information using HPO terms and parental samples to test labs Discuss challenges and solutions to implementing …

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Dysmorphology and Human Phenotype Ontology (HPO) in the NICU Setting

Carolyn Scoptur, APNP and Jennifer Stengrevics, PAC
@ 11:30 am

Presenters: Carolyn Scoptur, APNP and Jennifer Stengrevics, PAC Learning Objectives: Describe a basic dysmorphology exam Describe phenotypic abnormalities using standardized HPO vocabulary Identify clinician resources for dysmorphology exams and HPO terms Discuss challenges and solutions to …

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ECHO AAC Open House

@ 3:30 pm - 5:00 pm

It’s AAC awareness month! Join us to meet the new communication aids and systems clinic team, talk through case studies, and learn about what to expect when you’re referred to and come into an outpatient …

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