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Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|
September 27, 2019
Troublesome eye movements
Mari Oppebøen, Emilia Kerty
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|
December 1, 2018
Dopa-responsive dystonia
Hans Randby, Cathrin Lytomt Salvador, Mari Oppebøen, et al.
Pediatric Neurology
|
April 5, 2023
Increased Sphingomyelin and Free Sialic Acid in Cerebrospinal Fluid of Kearns-Sayre Syndrome: New Findings Using Untargeted Metabolomics
Cathrin Lytomt Salvador, Mari Oppebøen, Anja Østeby Vassli, et al.
Molecular Genetics and Metabolism
|
February 7, 2025
The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism
Itay Tokatly Latzer, Ellen Hanson, Mariarita Bertoldi, et al.
Journal of Inherited Metabolic Disease
|
May 6, 2020
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients
Toni S Pearson, Laura Gilbert, Thomas Opladen, et al.
Molecular Genetics and Metabolism
|
March 7, 2024
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
Itay Tokatly Latzer, Mariarita Bertoldi, Nenad Blau, et al.
Nature Communications
|
September 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.
Journal of Inherited Metabolic Disease
|
July 15, 2023
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
Yılmaz Yıldız, Oya Kuseyri Hübschmann, Ayça Akgöz Karaosmanoğlu, et al.
Journal of Inherited Metabolic Disease
|
January 14, 2021
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
Oya Kuseyri Hübschmann, Alexander Mohr, Jennifer Friedman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 17, 2026
Biallelic SUPT4H1 Variants Cause a Multisystem Neurodevelopmental Disorder Associated with Disrupted Transcription
Christina Canavati, Mari Oppebøen, Radha Verma, et al.
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Search research articles
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Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|
September 27, 2019
Troublesome eye movements
Mari Oppebøen, Emilia Kerty
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|
December 1, 2018
Dopa-responsive dystonia
Hans Randby, Cathrin Lytomt Salvador, Mari Oppebøen, et al.
Pediatric Neurology
|
April 5, 2023
Increased Sphingomyelin and Free Sialic Acid in Cerebrospinal Fluid of Kearns-Sayre Syndrome: New Findings Using Untargeted Metabolomics
Cathrin Lytomt Salvador, Mari Oppebøen, Anja Østeby Vassli, et al.
Molecular Genetics and Metabolism
|
February 7, 2025
The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism
Itay Tokatly Latzer, Ellen Hanson, Mariarita Bertoldi, et al.
Journal of Inherited Metabolic Disease
|
May 6, 2020
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients
Toni S Pearson, Laura Gilbert, Thomas Opladen, et al.
Molecular Genetics and Metabolism
|
March 7, 2024
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
Itay Tokatly Latzer, Mariarita Bertoldi, Nenad Blau, et al.
Nature Communications
|
September 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.
Journal of Inherited Metabolic Disease
|
July 15, 2023
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
Yılmaz Yıldız, Oya Kuseyri Hübschmann, Ayça Akgöz Karaosmanoğlu, et al.
Journal of Inherited Metabolic Disease
|
January 14, 2021
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
Oya Kuseyri Hübschmann, Alexander Mohr, Jennifer Friedman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 17, 2026
Biallelic SUPT4H1 Variants Cause a Multisystem Neurodevelopmental Disorder Associated with Disrupted Transcription
Christina Canavati, Mari Oppebøen, Radha Verma, et al.
Page
of 2