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Maria Pettersson

Showing results (51-60 of 54) with videos related to

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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.
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.
Genome Medicine|December 19, 2024
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expressionDavut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, et al.
Genome Medicine|March 17, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patientsHenrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, et al.
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Showing results (51-60 of 54) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 54 results.
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.
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.
Genome Medicine|December 19, 2024
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expressionDavut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, et al.
Genome Medicine|March 17, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patientsHenrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, et al.
Pageof 6