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Nature Communications
|
January 11, 2022
Robust and durable serological response following pediatric SARS-CoV-2 infection
Hanna 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 patients
Christian Staufner, Bianca Peters, Matias Wagner, et al.
American Journal of Human Genetics
|
July 16, 2020
The Genetic Landscape and Epidemiology of Phenylketonuria
Alicia 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 autophagy
Susan 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 dystonia
Michael Zech, Ivana Dzinovic, Matej Skorvanek, et al.
Hepatology (Baltimore, Md.)
|
November 17, 2023
Genetic landscape of pediatric acute liver failure of indeterminate origin
Dominic 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 2016
Rhea 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 deficiency
Kajus 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 findings
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Page
of 39
Search research articles
Search
Showing results (371-380 of 381) with videos related to
Sort By:
Page
of 39
Nature Communications
|
January 11, 2022
Robust and durable serological response following pediatric SARS-CoV-2 infection
Hanna 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 patients
Christian Staufner, Bianca Peters, Matias Wagner, et al.
American Journal of Human Genetics
|
July 16, 2020
The Genetic Landscape and Epidemiology of Phenylketonuria
Alicia 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 autophagy
Susan 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 dystonia
Michael Zech, Ivana Dzinovic, Matej Skorvanek, et al.
Hepatology (Baltimore, Md.)
|
November 17, 2023
Genetic landscape of pediatric acute liver failure of indeterminate origin
Dominic 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 2016
Rhea 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 deficiency
Kajus 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 findings
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Page
of 39