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Heidi Wallis

Showing results (1-10 of 8) with videos related to

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Frontiers in Neuroscience|March 13, 2025
How a patient-led advocacy organization supports the road to diagnosis and treatment of creatine transporter deficiencyHeidi Wallis, Sangeetha Iyer, Emily K Reinhardt
Therapeutic Innovation & Regulatory Science|March 5, 2026
Systematic Review of Patient Focused Drug Development Meeting Reports for Conditions Affecting NeurodevelopmentCristan Farmer, Victoria Kim, Tanvi Das, et al.
AMIA Joint Summits on Translational Science Proceedings. AMIA Joint Summits on Translational Science|August 30, 2021
ResultsMyWay: combining Fast Healthcare Interoperability Resources (FHIR), Clinical Quality Language (CQL), and informational resources to create a newborn screening applicationMichael Watkins, Alex Au, Truc Vuong, et al.
International Journal of Neonatal Screening|November 29, 2021
Towards a Newborn Screening Common Data Model: The Utah Newborn Screening Data ModelDavid Jones, Jianyin Shao, Heidi Wallis, et al.
Molecular Genetics and Metabolism|March 7, 2024
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromesJennifer Goldstein, Amanda Thomas-Wilson, Emily Groopman, et al.
Molecular Genetics and Metabolism|August 14, 2021
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiencyKim Hart, Andreas Rohrwasser, Heidi Wallis, et al.
Orphanet Journal of Rare Diseases|August 8, 2025
Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiencyZahra Nasseri Moghaddam, Emily K Reinhardt, Audrey Thurm, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Establishing a Core Outcome Set for Creatine Transporter Deficiency and Guanidinoacetate Methyltransferase DeficiencyZahra Nasseri Moghaddam, Emily K Reinhardt, Audrey Thurm, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Frontiers in Neuroscience|March 13, 2025
How a patient-led advocacy organization supports the road to diagnosis and treatment of creatine transporter deficiencyHeidi Wallis, Sangeetha Iyer, Emily K Reinhardt
Therapeutic Innovation & Regulatory Science|March 5, 2026
Systematic Review of Patient Focused Drug Development Meeting Reports for Conditions Affecting NeurodevelopmentCristan Farmer, Victoria Kim, Tanvi Das, et al.
AMIA Joint Summits on Translational Science Proceedings. AMIA Joint Summits on Translational Science|August 30, 2021
ResultsMyWay: combining Fast Healthcare Interoperability Resources (FHIR), Clinical Quality Language (CQL), and informational resources to create a newborn screening applicationMichael Watkins, Alex Au, Truc Vuong, et al.
International Journal of Neonatal Screening|November 29, 2021
Towards a Newborn Screening Common Data Model: The Utah Newborn Screening Data ModelDavid Jones, Jianyin Shao, Heidi Wallis, et al.
Molecular Genetics and Metabolism|March 7, 2024
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromesJennifer Goldstein, Amanda Thomas-Wilson, Emily Groopman, et al.
Molecular Genetics and Metabolism|August 14, 2021
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiencyKim Hart, Andreas Rohrwasser, Heidi Wallis, et al.
Orphanet Journal of Rare Diseases|August 8, 2025
Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiencyZahra Nasseri Moghaddam, Emily K Reinhardt, Audrey Thurm, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Establishing a Core Outcome Set for Creatine Transporter Deficiency and Guanidinoacetate Methyltransferase DeficiencyZahra Nasseri Moghaddam, Emily K Reinhardt, Audrey Thurm, et al.
Pageof 1