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Katja Ekholm

Showing results (1-10 of 5) with videos related to

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Orphanet Journal of Rare Diseases|November 8, 2021
Williams syndrome: on the role of intellectual abilities in anxietyCharlotte Willfors, Deborah M Riby, Marcus van der Poll, et al.
Cognitive Neuropsychiatry|May 11, 2023
Cognitive profile in adult women with turner syndrome: IQ split and associations with ADHD and ASDHanna Björlin Avdic, Johan Lundin Kleberg, Marcus van der Poll, et al.
Scientific Reports|December 23, 2025
Implementing electronic informed consent in rare disease genomicsKatja Ekholm, Annelie Augustinsson, Johan Sundström, et al.
The Lancet Regional Health. Europe|May 28, 2024
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish studyBianca Tesi, Kristina Lagerstedt Robinson, Frida Abel, et al.
Nature Genetics|October 21, 2024
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed HackathonAngelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan, et al.
Pageof 1

Showing results (1-10 of 5) with videos related to

Sort By:
Pageof 1
Orphanet Journal of Rare Diseases|November 8, 2021
Williams syndrome: on the role of intellectual abilities in anxietyCharlotte Willfors, Deborah M Riby, Marcus van der Poll, et al.
Cognitive Neuropsychiatry|May 11, 2023
Cognitive profile in adult women with turner syndrome: IQ split and associations with ADHD and ASDHanna Björlin Avdic, Johan Lundin Kleberg, Marcus van der Poll, et al.
Scientific Reports|December 23, 2025
Implementing electronic informed consent in rare disease genomicsKatja Ekholm, Annelie Augustinsson, Johan Sundström, et al.
The Lancet Regional Health. Europe|May 28, 2024
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish studyBianca Tesi, Kristina Lagerstedt Robinson, Frida Abel, et al.
Nature Genetics|October 21, 2024
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed HackathonAngelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan, et al.
Pageof 1