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Daniel Nilsson

Showing results (161-170 of 178) with videos related to

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Plos Genetics|November 13, 2018
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterizationLusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 5, 2024
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral FounderZhongbo Chen, Pilar Alvarez Jerez, Claire Anderson, et al.
Science Advances|December 3, 2020
Enoxacin induces oxidative metabolism and mitigates obesity by regulating adipose tissue miRNA expressionAndréa Livia Rocha, Tanes Imamura de Lima, Gerson Profeta de Souza, et al.
European Journal of Human Genetics : EJHG|August 24, 2017
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish populationAdam Ameur, Johan Dahlberg, Pall Olason, et al.
Neurogenetics|January 24, 2021
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlationsJean-Loup Méreaux, Cristina Firanescu, Giulia Coarelli, et al.
Genome Medicine|November 8, 2019
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disabilityAnna Lindstrand, Jesper Eisfeldt, Maria Pettersson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 6, 2022
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disabilityAnna Lindstrand, Marlene Ek, Malin Kvarnung, et al.
Frontiers in Genetics|July 7, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical settingHelena Malmgren, Malin Kvarnung, Peter Gustafsson, et al.
American Journal of Human Genetics|August 26, 2014
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayRocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, et al.
Journal of Human Genetics|April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analysesAnna Hammarsjö, Maria Pettersson, David Chitayat, et al.
Pageof 18

Showing results (161-170 of 178) with videos related to

Sort By:
Pageof 18
Plos Genetics|November 13, 2018
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterizationLusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 5, 2024
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral FounderZhongbo Chen, Pilar Alvarez Jerez, Claire Anderson, et al.
Science Advances|December 3, 2020
Enoxacin induces oxidative metabolism and mitigates obesity by regulating adipose tissue miRNA expressionAndréa Livia Rocha, Tanes Imamura de Lima, Gerson Profeta de Souza, et al.
European Journal of Human Genetics : EJHG|August 24, 2017
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish populationAdam Ameur, Johan Dahlberg, Pall Olason, et al.
Neurogenetics|January 24, 2021
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlationsJean-Loup Méreaux, Cristina Firanescu, Giulia Coarelli, et al.
Genome Medicine|November 8, 2019
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disabilityAnna Lindstrand, Jesper Eisfeldt, Maria Pettersson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 6, 2022
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disabilityAnna Lindstrand, Marlene Ek, Malin Kvarnung, et al.
Frontiers in Genetics|July 7, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical settingHelena Malmgren, Malin Kvarnung, Peter Gustafsson, et al.
American Journal of Human Genetics|August 26, 2014
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayRocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, et al.
Journal of Human Genetics|April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analysesAnna Hammarsjö, Maria Pettersson, David Chitayat, et al.
Pageof 18