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Pediatric Neurology
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January 31, 2024
Sunflower Syndrome: A Survey of Provider Awareness and Management Preferences
Fiona 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 deficiency
Claudia 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 Disorders
Blas 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 falciparum
Christian 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 Disease
Naomi 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 findings
Joachim Richter, Hannah Wei Wu, An Ning, et al.
Pediatric Neurology
|
January 5, 2025
The Prevalence of RNU4-2-Associated Autosomal Dominant Intellectual Disability Syndrome
Kristen 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 genotypes
Laura Zima, Sophia Ceulemans, Gail Reiner, et al.
BMC Neurology
|
June 18, 2020
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation
Andrew 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 literature
Shaden H Yassin, Riley Henderson, Jerica Lenberg, et al.
Page
of 9
Search research articles
Search
Showing results (21-30 of 90) with videos related to
Sort By:
Page
of 9
Pediatric Neurology
|
January 31, 2024
Sunflower Syndrome: A Survey of Provider Awareness and Management Preferences
Fiona 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 deficiency
Claudia 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 Disorders
Blas 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 falciparum
Christian 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 Disease
Naomi 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 findings
Joachim Richter, Hannah Wei Wu, An Ning, et al.
Pediatric Neurology
|
January 5, 2025
The Prevalence of RNU4-2-Associated Autosomal Dominant Intellectual Disability Syndrome
Kristen 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 genotypes
Laura Zima, Sophia Ceulemans, Gail Reiner, et al.
BMC Neurology
|
June 18, 2020
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation
Andrew 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 literature
Shaden H Yassin, Riley Henderson, Jerica Lenberg, et al.
Page
of 9