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American Journal of Medical Genetics. Part A
|
December 10, 2020
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis
Maxwell L Summerlin, Debra S Regier, Jamie L Fraser, et al.
BMJ Supportive & Palliative Care
|
July 27, 2019
Family caregivers of children and adolescents with rare diseases: a novel palliative care intervention
Maureen E Lyon, Jessica D Thompkins, Karen Fratantoni, et al.
Pediatric Blood & Cancer
|
September 7, 2021
Hodgkin lymphoma in an individual with TREX1-mediated Aicardi Goutières syndrome
Francesco Gavazzi, Jamie L Fraser, Miriam Bloom, et al.
Molecular Genetics and Metabolism Reports
|
November 30, 2016
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies
Jamie L Fraser, Adeline Vanderver, Sandra Yang, et al.
Pediatrics
|
May 3, 2024
Advance Care Planning for Children With Rare Diseases: A Pilot RCT
Maureen E Lyon, Jamie L Fraser, Jessica D Thompkins, et al.
Orphanet Journal of Rare Diseases
|
April 29, 2026
Rigorous genetic diagnosis review in natural history studies
Amy Pizzino, Kaley Arnold, Emma Wiener, et al.
Molecular Genetics and Metabolism
|
September 27, 2024
Systemic complications of Aicardi Goutières syndrome using real-world data
Isabella Peixoto de Barcelos, Amanda K Jan, Nicholson Modesti, et al.
Molecular Genetics and Metabolism
|
March 24, 2024
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach
Laura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 9, 2025
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing
Carlos A Dominguez Gonzalez, Nancy B Spinner, Rebecca C Ahrens-Nicklas, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 17, 2020
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration
Thomas Klopstock, Aleksandar Videnovic, Almut Turid Bischoff, et al.
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of 4
Search research articles
Search
Showing results (21-30 of 39) with videos related to
Sort By:
Page
of 4
American Journal of Medical Genetics. Part A
|
December 10, 2020
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis
Maxwell L Summerlin, Debra S Regier, Jamie L Fraser, et al.
BMJ Supportive & Palliative Care
|
July 27, 2019
Family caregivers of children and adolescents with rare diseases: a novel palliative care intervention
Maureen E Lyon, Jessica D Thompkins, Karen Fratantoni, et al.
Pediatric Blood & Cancer
|
September 7, 2021
Hodgkin lymphoma in an individual with TREX1-mediated Aicardi Goutières syndrome
Francesco Gavazzi, Jamie L Fraser, Miriam Bloom, et al.
Molecular Genetics and Metabolism Reports
|
November 30, 2016
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies
Jamie L Fraser, Adeline Vanderver, Sandra Yang, et al.
Pediatrics
|
May 3, 2024
Advance Care Planning for Children With Rare Diseases: A Pilot RCT
Maureen E Lyon, Jamie L Fraser, Jessica D Thompkins, et al.
Orphanet Journal of Rare Diseases
|
April 29, 2026
Rigorous genetic diagnosis review in natural history studies
Amy Pizzino, Kaley Arnold, Emma Wiener, et al.
Molecular Genetics and Metabolism
|
September 27, 2024
Systemic complications of Aicardi Goutières syndrome using real-world data
Isabella Peixoto de Barcelos, Amanda K Jan, Nicholson Modesti, et al.
Molecular Genetics and Metabolism
|
March 24, 2024
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach
Laura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 9, 2025
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing
Carlos A Dominguez Gonzalez, Nancy B Spinner, Rebecca C Ahrens-Nicklas, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 17, 2020
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration
Thomas Klopstock, Aleksandar Videnovic, Almut Turid Bischoff, et al.
Page
of 4