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American Journal of Medical Genetics. Part A
|
October 4, 2025
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders
Theresa Brunet, Michael Zech, Ulrich A Schatz, et al.
Neuropediatrics
|
March 28, 2024
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago
Maureen Jacob, Melanie Brugger, Stephanie Andres, et al.
European Journal of Medicinal Chemistry
|
August 31, 2025
Comparative evaluation of three <sup>18</sup>F-fluorinated FAP ligands in rodent tumor models
Chris Hoffmann, Benedikt Gröner, Victor Bahutski, et al.
Annals of Clinical and Translational Neurology
|
May 1, 2024
Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation
Tandis Parvizi, Sigrid Klotz, Omar Keritam, et al.
Neurology. Genetics
|
May 9, 2025
Holistic Exome-Based Genetic Testing in Adults With Epilepsy
Martin Krenn, Matias Wagner, Karin Trimmel, et al.
Clinical Genetics
|
October 3, 2022
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome
Bernt Popp, Melanie Brugger, Sibylle Poschmann, et al.
Journal of Neurology
|
December 21, 2023
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses
Martin Krenn, Matias Wagner, Gudrun Zulehner, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 9, 2026
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics
Ugo Sorrentino, Melanie Brugger, Alice Saparov, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 1, 2025
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza-Schreiber, et al.
Kidney International Reports
|
April 14, 2025
Trio Exome Sequencing in VACTERL Association
Jasmina Ćomić, Erik Tilch, Korbinian M Riedhammer, et al.
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of 4
Search research articles
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Showing results (11-20 of 38) with videos related to
Sort By:
Page
of 4
American Journal of Medical Genetics. Part A
|
October 4, 2025
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders
Theresa Brunet, Michael Zech, Ulrich A Schatz, et al.
Neuropediatrics
|
March 28, 2024
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago
Maureen Jacob, Melanie Brugger, Stephanie Andres, et al.
European Journal of Medicinal Chemistry
|
August 31, 2025
Comparative evaluation of three <sup>18</sup>F-fluorinated FAP ligands in rodent tumor models
Chris Hoffmann, Benedikt Gröner, Victor Bahutski, et al.
Annals of Clinical and Translational Neurology
|
May 1, 2024
Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation
Tandis Parvizi, Sigrid Klotz, Omar Keritam, et al.
Neurology. Genetics
|
May 9, 2025
Holistic Exome-Based Genetic Testing in Adults With Epilepsy
Martin Krenn, Matias Wagner, Karin Trimmel, et al.
Clinical Genetics
|
October 3, 2022
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome
Bernt Popp, Melanie Brugger, Sibylle Poschmann, et al.
Journal of Neurology
|
December 21, 2023
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses
Martin Krenn, Matias Wagner, Gudrun Zulehner, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 9, 2026
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics
Ugo Sorrentino, Melanie Brugger, Alice Saparov, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 1, 2025
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza-Schreiber, et al.
Kidney International Reports
|
April 14, 2025
Trio Exome Sequencing in VACTERL Association
Jasmina Ćomić, Erik Tilch, Korbinian M Riedhammer, et al.
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of 4