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Maria Johansson-Soller

Showing results (11-20 of 29) with videos related to

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Plos One|February 17, 2022
A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish populationKristina Lagerstedt-Robinson, Izabella Baranowska Körberg, Stefanos Tsiaprazis, et al.
BMC Global and Public Health|June 16, 2026
Extracting homogenous data from heterogenous diseases: RaraSwed, the Swedish national rare disease quality registrySanna Mansoob, Dan Hellström, Magnus Burstedt, et al.
Plos One|January 28, 2022
Assessing women's preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods designJennifer Hammond, Jasmijn E Klapwijk, Sam Riedijk, et al.
Genome Medicine|January 9, 2026
Long-read genome sequencing enhances diagnostics of pediatric neurological disordersMarlene Ek, Malin Kvarnung, Esmee Ten Berk de Boer, et al.
Scientific Reports|December 23, 2025
Implementing electronic informed consent in rare disease genomicsKatja Ekholm, Annelie Augustinsson, Johan Sundström, et al.
Prenatal Diagnosis|April 27, 2022
Factors that impact on women's decision-making around prenatal genomic tests: An international discrete choice surveyJames Buchanan, Melissa Hill, Caroline M Vass, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|June 22, 2019
Psychiatric genetic counseling: A mapping exerciseRamona Moldovan, Kevin A McGhee, Domenico Coviello, et al.
Psychiatric Genetics|February 13, 2025
Unresolved ethical issues of genetic counseling and testing in clinical psychiatryJulia Perry, Eline Bunnik, Marcella Rietschel, et al.
European Journal of Medical Genetics|July 5, 2023
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey studyKati Koido, Charlotta Ingvoldstad Malmgren, Lejla Pojskic, 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.
Pageof 3

Showing results (11-20 of 29) with videos related to

Sort By:
Pageof 3
Plos One|February 17, 2022
A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish populationKristina Lagerstedt-Robinson, Izabella Baranowska Körberg, Stefanos Tsiaprazis, et al.
BMC Global and Public Health|June 16, 2026
Extracting homogenous data from heterogenous diseases: RaraSwed, the Swedish national rare disease quality registrySanna Mansoob, Dan Hellström, Magnus Burstedt, et al.
Plos One|January 28, 2022
Assessing women's preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods designJennifer Hammond, Jasmijn E Klapwijk, Sam Riedijk, et al.
Genome Medicine|January 9, 2026
Long-read genome sequencing enhances diagnostics of pediatric neurological disordersMarlene Ek, Malin Kvarnung, Esmee Ten Berk de Boer, et al.
Scientific Reports|December 23, 2025
Implementing electronic informed consent in rare disease genomicsKatja Ekholm, Annelie Augustinsson, Johan Sundström, et al.
Prenatal Diagnosis|April 27, 2022
Factors that impact on women's decision-making around prenatal genomic tests: An international discrete choice surveyJames Buchanan, Melissa Hill, Caroline M Vass, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|June 22, 2019
Psychiatric genetic counseling: A mapping exerciseRamona Moldovan, Kevin A McGhee, Domenico Coviello, et al.
Psychiatric Genetics|February 13, 2025
Unresolved ethical issues of genetic counseling and testing in clinical psychiatryJulia Perry, Eline Bunnik, Marcella Rietschel, et al.
European Journal of Medical Genetics|July 5, 2023
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey studyKati Koido, Charlotta Ingvoldstad Malmgren, Lejla Pojskic, 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.
Pageof 3