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Melanie Brugger

Showing results (1-10 of 38) with videos related to

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Clinical Genetics|July 27, 2021
A C-terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR-associated syndromic microphthalmiaEva Maria Christina Schwaibold, Melanie Brugger, Matias Wagner
Movement Disorders Clinical Practice|June 29, 2024
Adult-Onset Parkinsonism as Late Manifestation of HIVEP2-Associated Developmental DisorderSusann Badmann, Florian Castrop, Melanie Brugger, et al.
Parkinsonism & Related Disorders|February 25, 2023
TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor?Astrid Blaschek, Alexandra Sitzberger, Melanie Brugger, et al.
Gene|November 9, 2020
Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorderMelanie Brugger, Theresa Brunet, Matias Wagner, et al.
Annals of Clinical and Translational Neurology|December 1, 2020
A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathyMelanie Brugger, Fiona Becker-Dettling, Theresa Brunet, et al.
Chemical Communications (Cambridge, England)|July 21, 2020
Preparation of labeled aromatic amino acids via late-stage <sup>18</sup>F-fluorination of chiral nickel and copper complexesAustin Craig, Niklas Kolks, Elizaveta A Urusova, et al.
Movement Disorders Clinical Practice|July 21, 2023
Challenges in Establishing the Diagnosis of <i>PRRT2</i>-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric StretchIvana Dzinovic, Elisabeth Graf, Melanie Brugger, et al.
Molecular Pharmaceutics|May 15, 2024
Radiosynthesis and Preclinical Evaluation of <i>m</i>-[<sup>18</sup>F]FET and [<sup>18</sup>F]FET-OMe as Novel [<sup>18</sup>F]FET Analogs for Brain Tumor ImagingBenedikt Gröner, Chris Hoffmann, Heike Endepols, et al.
Cancers|December 10, 2021
Evaluation of 3-l- and 3-d-[<sup>18</sup>F]Fluorophenylalanines as PET Tracers for Tumor ImagingFelicia Krämer, Benedikt Gröner, Chris Hoffmann, et al.
Endocrine|November 8, 2023
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project)Sebastian Gippert, Matias Wagner, Theresa Brunet, et al.
Pageof 4

Showing results (1-10 of 38) with videos related to

Sort By:
Pageof 4
Clinical Genetics|July 27, 2021
A C-terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR-associated syndromic microphthalmiaEva Maria Christina Schwaibold, Melanie Brugger, Matias Wagner
Movement Disorders Clinical Practice|June 29, 2024
Adult-Onset Parkinsonism as Late Manifestation of HIVEP2-Associated Developmental DisorderSusann Badmann, Florian Castrop, Melanie Brugger, et al.
Parkinsonism & Related Disorders|February 25, 2023
TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor?Astrid Blaschek, Alexandra Sitzberger, Melanie Brugger, et al.
Gene|November 9, 2020
Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorderMelanie Brugger, Theresa Brunet, Matias Wagner, et al.
Annals of Clinical and Translational Neurology|December 1, 2020
A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathyMelanie Brugger, Fiona Becker-Dettling, Theresa Brunet, et al.
Chemical Communications (Cambridge, England)|July 21, 2020
Preparation of labeled aromatic amino acids via late-stage <sup>18</sup>F-fluorination of chiral nickel and copper complexesAustin Craig, Niklas Kolks, Elizaveta A Urusova, et al.
Movement Disorders Clinical Practice|July 21, 2023
Challenges in Establishing the Diagnosis of <i>PRRT2</i>-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric StretchIvana Dzinovic, Elisabeth Graf, Melanie Brugger, et al.
Molecular Pharmaceutics|May 15, 2024
Radiosynthesis and Preclinical Evaluation of <i>m</i>-[<sup>18</sup>F]FET and [<sup>18</sup>F]FET-OMe as Novel [<sup>18</sup>F]FET Analogs for Brain Tumor ImagingBenedikt Gröner, Chris Hoffmann, Heike Endepols, et al.
Cancers|December 10, 2021
Evaluation of 3-l- and 3-d-[<sup>18</sup>F]Fluorophenylalanines as PET Tracers for Tumor ImagingFelicia Krämer, Benedikt Gröner, Chris Hoffmann, et al.
Endocrine|November 8, 2023
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project)Sebastian Gippert, Matias Wagner, Theresa Brunet, et al.
Pageof 4