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Johanna Winberg

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Journal of Pediatric Surgery|July 19, 2011
Mutation analysis of the motor neuron and pancreas homeobox 1 (MNX1, former HLXB9) gene in Swedish patients with Currarino syndromeShulu Zu, Johanna Winberg, Fabian Arnberg, et al.
Molecular Genetics & Genomic Medicine|December 15, 2019
Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformationsJohanna Winberg, Peter Gustavsson, Ellika Sahlin, et al.
American Journal of Medical Genetics. Part A|November 9, 2022
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophyAgneta Nordenskjöld, Samara Arkani, Maria Pettersson, et al.
European Journal of Medical Genetics|February 6, 2015
No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformationsJohanna Winberg, Håkan Berggren, Torsten Malm, et al.
Plos One|January 14, 2014
Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL associationJohanna Winberg, Peter Gustavsson, Nikos Papadogiannakis, et al.
American Journal of Medical Genetics. Part A|April 25, 2013
Partial tetrasomy 14 associated with multiple malformationsJohanna Winberg, Kristina Lagerstedt Robinson, Karin Naess, et al.
American Journal of Medical Genetics. Part A|August 31, 2010
Chimerism resulting from parthenogenetic activation and dispermic fertilizationJohanna Winberg, Peter Gustavsson, Kristina Lagerstedt-Robinson, 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.
Genome Medicine|March 31, 2026
The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementationAnna Lindstrand, Kristina Lagerstedt-Robinson, Anders Jemt, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Journal of Pediatric Surgery|July 19, 2011
Mutation analysis of the motor neuron and pancreas homeobox 1 (MNX1, former HLXB9) gene in Swedish patients with Currarino syndromeShulu Zu, Johanna Winberg, Fabian Arnberg, et al.
Molecular Genetics & Genomic Medicine|December 15, 2019
Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformationsJohanna Winberg, Peter Gustavsson, Ellika Sahlin, et al.
American Journal of Medical Genetics. Part A|November 9, 2022
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophyAgneta Nordenskjöld, Samara Arkani, Maria Pettersson, et al.
European Journal of Medical Genetics|February 6, 2015
No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformationsJohanna Winberg, Håkan Berggren, Torsten Malm, et al.
Plos One|January 14, 2014
Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL associationJohanna Winberg, Peter Gustavsson, Nikos Papadogiannakis, et al.
American Journal of Medical Genetics. Part A|April 25, 2013
Partial tetrasomy 14 associated with multiple malformationsJohanna Winberg, Kristina Lagerstedt Robinson, Karin Naess, et al.
American Journal of Medical Genetics. Part A|August 31, 2010
Chimerism resulting from parthenogenetic activation and dispermic fertilizationJohanna Winberg, Peter Gustavsson, Kristina Lagerstedt-Robinson, 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.
Genome Medicine|March 31, 2026
The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementationAnna Lindstrand, Kristina Lagerstedt-Robinson, Anders Jemt, et al.
Pageof 1