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Georg F Hoffmann

Showing results (371-380 of 381) with videos related to

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Nature Communications|January 11, 2022
Robust and durable serological response following pediatric SARS-CoV-2 infectionHanna Renk, Alex Dulovic, Alina Seidel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2019
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patientsChristian Staufner, Bianca Peters, Matias Wagner, et al.
American Journal of Human Genetics|July 16, 2020
The Genetic Landscape and Epidemiology of PhenylketonuriaAlicia Hillert, Yair Anikster, Amaya Belanger-Quintana, et al.
Neurology|July 5, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in <i>STXBP1</i>Kim M Thalwitzer, Jan H Driedger, Julie Xian, et al.
Brain : a Journal of Neurology|February 27, 2016
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagySusan Byrne, Lara Jansen, Jean-Marie U-King-Im, et al.
Brain : a Journal of Neurology|February 12, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystoniaMichael Zech, Ivana Dzinovic, Matej Skorvanek, et al.
Hepatology (Baltimore, Md.)|November 17, 2023
Genetic landscape of pediatric acute liver failure of indeterminate originDominic Lenz, Lea D Schlieben, Masaru Shimura, et al.
Molecular and Cellular Pediatrics|May 19, 2017
Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016Rhea van den Bruck, Patrick P Weil, Thomas Ziegenhals, et al.
Brain : a Journal of Neurology|November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Pageof 39

Showing results (371-380 of 381) with videos related to

Sort By:
Pageof 39
Nature Communications|January 11, 2022
Robust and durable serological response following pediatric SARS-CoV-2 infectionHanna Renk, Alex Dulovic, Alina Seidel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2019
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patientsChristian Staufner, Bianca Peters, Matias Wagner, et al.
American Journal of Human Genetics|July 16, 2020
The Genetic Landscape and Epidemiology of PhenylketonuriaAlicia Hillert, Yair Anikster, Amaya Belanger-Quintana, et al.
Neurology|July 5, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in <i>STXBP1</i>Kim M Thalwitzer, Jan H Driedger, Julie Xian, et al.
Brain : a Journal of Neurology|February 27, 2016
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagySusan Byrne, Lara Jansen, Jean-Marie U-King-Im, et al.
Brain : a Journal of Neurology|February 12, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystoniaMichael Zech, Ivana Dzinovic, Matej Skorvanek, et al.
Hepatology (Baltimore, Md.)|November 17, 2023
Genetic landscape of pediatric acute liver failure of indeterminate originDominic Lenz, Lea D Schlieben, Masaru Shimura, et al.
Molecular and Cellular Pediatrics|May 19, 2017
Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016Rhea van den Bruck, Patrick P Weil, Thomas Ziegenhals, et al.
Brain : a Journal of Neurology|November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Pageof 39