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Jennifer Friedman

Showing results (21-30 of 90) with videos related to

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Pediatric Neurology|January 31, 2024
Sunflower Syndrome: A Survey of Provider Awareness and Management PreferencesFiona M Baumer, Kristina Julich, Jennifer Friedman, et al.
Molecular Genetics and Metabolism|July 1, 2015
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiencyClaudia Carducci, Silvia Santagata, Jennifer Friedman, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 9, 2024
Severe Acute Motor Exacerbations (SAME) across Metabolic, Developmental and Genetic DisordersBlas Couto, Serena Galosi, Dora Steel, et al.
The Journal of Infectious Diseases|August 10, 2005
Antibodies to rhoptry-associated membrane antigen predict resistance to Plasmodium falciparumChristian P Nixon, Jennifer Friedman, Kristina Treanor, et al.
American Journal of Medical Genetics. Part A|November 26, 2025
Expanding the Phenotype of Syndromic SLC30A9-Associated DiseaseNaomi E Wagner, Shadi M AlAshwal, Jerica Lenberg, et al.
Transactions of the Royal Society of Tropical Medicine and Hygiene|January 7, 2026
Schistosoma japonicum infection: clinical significance of ultrasound findingsJoachim Richter, Hannah Wei Wu, An Ning, et al.
Pediatric Neurology|January 5, 2025
The Prevalence of RNU4-2-Associated Autosomal Dominant Intellectual Disability SyndromeKristen Barbour, Jennifer Friedman, Lynne M Bird, et al.
Annals of Clinical and Translational Neurology|August 22, 2018
Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypesLaura Zima, Sophia Ceulemans, Gail Reiner, et al.
BMC Neurology|June 18, 2020
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentationAndrew Ng, Serena Galosi, Lisa Salz, et al.
American Journal of Medical Genetics. Part A|January 31, 2023
Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literatureShaden H Yassin, Riley Henderson, Jerica Lenberg, et al.
Pageof 9

Showing results (21-30 of 90) with videos related to

Sort By:
Pageof 9
Pediatric Neurology|January 31, 2024
Sunflower Syndrome: A Survey of Provider Awareness and Management PreferencesFiona M Baumer, Kristina Julich, Jennifer Friedman, et al.
Molecular Genetics and Metabolism|July 1, 2015
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiencyClaudia Carducci, Silvia Santagata, Jennifer Friedman, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 9, 2024
Severe Acute Motor Exacerbations (SAME) across Metabolic, Developmental and Genetic DisordersBlas Couto, Serena Galosi, Dora Steel, et al.
The Journal of Infectious Diseases|August 10, 2005
Antibodies to rhoptry-associated membrane antigen predict resistance to Plasmodium falciparumChristian P Nixon, Jennifer Friedman, Kristina Treanor, et al.
American Journal of Medical Genetics. Part A|November 26, 2025
Expanding the Phenotype of Syndromic SLC30A9-Associated DiseaseNaomi E Wagner, Shadi M AlAshwal, Jerica Lenberg, et al.
Transactions of the Royal Society of Tropical Medicine and Hygiene|January 7, 2026
Schistosoma japonicum infection: clinical significance of ultrasound findingsJoachim Richter, Hannah Wei Wu, An Ning, et al.
Pediatric Neurology|January 5, 2025
The Prevalence of RNU4-2-Associated Autosomal Dominant Intellectual Disability SyndromeKristen Barbour, Jennifer Friedman, Lynne M Bird, et al.
Annals of Clinical and Translational Neurology|August 22, 2018
Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypesLaura Zima, Sophia Ceulemans, Gail Reiner, et al.
BMC Neurology|June 18, 2020
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentationAndrew Ng, Serena Galosi, Lisa Salz, et al.
American Journal of Medical Genetics. Part A|January 31, 2023
Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literatureShaden H Yassin, Riley Henderson, Jerica Lenberg, et al.
Pageof 9