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Maria Pettersson

Showing results (41-50 of 54) with videos related to

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Human Mutation|September 9, 2020
Cytogenetically visible inversions are formed by multiple molecular mechanismsMaria Pettersson, Christopher M Grochowski, Josephine Wincent, et al.
Human Mutation|November 19, 2016
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of FormationDaniel Nilsson, Maria Pettersson, Peter Gustavsson, et al.
Frontiers in Neurology|June 5, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disordersMarlene Ek, Daniel Nilsson, Martin Engvall, et al.
European Journal of Human Genetics : EJHG|November 30, 2024
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorderMalin Kvarnung, Maria Pettersson, Pattra Chun-On, et al.
Journal of Medical Genetics|November 9, 2013
Different mutations in PDE4D associated with developmental disorders with mirror phenotypesAnna Lindstrand, Giedre Grigelioniene, Daniel Nilsson, et al.
Journal of Internal Medicine|May 8, 2023
A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologiesMaribel Aranda-Guillén, Ellen Christine Røyrvik, Sara Fletcher-Sandersjöö, et al.
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.
Ambio|January 9, 2016
Replacing monocultures with mixed-species stands: Ecosystem service implications of two production forest alternatives in SwedenAdam Felton, Urban Nilsson, Johan Sonesson, 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.
Pageof 6

Showing results (41-50 of 54) with videos related to

Sort By:
Pageof 6
Human Mutation|September 9, 2020
Cytogenetically visible inversions are formed by multiple molecular mechanismsMaria Pettersson, Christopher M Grochowski, Josephine Wincent, et al.
Human Mutation|November 19, 2016
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of FormationDaniel Nilsson, Maria Pettersson, Peter Gustavsson, et al.
Frontiers in Neurology|June 5, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disordersMarlene Ek, Daniel Nilsson, Martin Engvall, et al.
European Journal of Human Genetics : EJHG|November 30, 2024
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorderMalin Kvarnung, Maria Pettersson, Pattra Chun-On, et al.
Journal of Medical Genetics|November 9, 2013
Different mutations in PDE4D associated with developmental disorders with mirror phenotypesAnna Lindstrand, Giedre Grigelioniene, Daniel Nilsson, et al.
Journal of Internal Medicine|May 8, 2023
A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologiesMaribel Aranda-Guillén, Ellen Christine Røyrvik, Sara Fletcher-Sandersjöö, et al.
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.
Ambio|January 9, 2016
Replacing monocultures with mixed-species stands: Ecosystem service implications of two production forest alternatives in SwedenAdam Felton, Urban Nilsson, Johan Sonesson, 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.
Pageof 6