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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 19, 2021
Severity modeling of propionic acidemia using clinical and laboratory biomarkers
Oleg A Shchelochkov, Irini Manoli, Paul Juneau, et al.
Journal of Medical Genetics
|
September 20, 2015
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
May Christine V Malicdan, Thierry Vilboux, Joshi Stephen, et al.
Neurology
|
April 27, 2023
Neurocognitive Dysfunction With Neuronal Injury in People With HIV on Long-Duration Antiretroviral Therapy
Cynthia McMahan, Devon K Dietrich, Elizabeth F Horne, et al.
Biorxiv : the Preprint Server for Biology
|
September 2, 2025
Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis
Clayton W Winkler, Benjamin Schwarz, Katie Williams, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 11, 2021
Correction to: 1-<sup>13</sup>C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, et al.
Arthritis and Rheumatism
|
February 2, 2012
Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes
Cailin H Sibley, Nikki Plass, Joseph Snow, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 6, 2021
1-<sup>13</sup>C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, et al.
American Journal of Medical Genetics. Part A
|
November 12, 2019
Healthcare recommendations for Joubert syndrome
Ruxandra Bachmann-Gagescu, Jennifer C Dempsey, Sara Bulgheroni, et al.
Genetics in Medicine Open
|
July 15, 2025
Systematic phenotype and genotype characterization of Moebius syndrome
Bryn D Webb, Julie A Jurgens, Narisu Narisu, et al.
Nature Genetics
|
June 29, 2023
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Alan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, et al.
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Search research articles
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Showing results (51-60 of 61) with videos related to
Sort By:
Page
of 7
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 19, 2021
Severity modeling of propionic acidemia using clinical and laboratory biomarkers
Oleg A Shchelochkov, Irini Manoli, Paul Juneau, et al.
Journal of Medical Genetics
|
September 20, 2015
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
May Christine V Malicdan, Thierry Vilboux, Joshi Stephen, et al.
Neurology
|
April 27, 2023
Neurocognitive Dysfunction With Neuronal Injury in People With HIV on Long-Duration Antiretroviral Therapy
Cynthia McMahan, Devon K Dietrich, Elizabeth F Horne, et al.
Biorxiv : the Preprint Server for Biology
|
September 2, 2025
Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis
Clayton W Winkler, Benjamin Schwarz, Katie Williams, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 11, 2021
Correction to: 1-<sup>13</sup>C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, et al.
Arthritis and Rheumatism
|
February 2, 2012
Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes
Cailin H Sibley, Nikki Plass, Joseph Snow, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 6, 2021
1-<sup>13</sup>C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, et al.
American Journal of Medical Genetics. Part A
|
November 12, 2019
Healthcare recommendations for Joubert syndrome
Ruxandra Bachmann-Gagescu, Jennifer C Dempsey, Sara Bulgheroni, et al.
Genetics in Medicine Open
|
July 15, 2025
Systematic phenotype and genotype characterization of Moebius syndrome
Bryn D Webb, Julie A Jurgens, Narisu Narisu, et al.
Nature Genetics
|
June 29, 2023
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Alan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, et al.
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of 7