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Anna Lindstrand

Showing results (11-20 of 127) with videos related to

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Acta Ophthalmologica|December 6, 2024
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal diseaseKarl De Geer, Stefan Löfgren, Anna Lindstrand, et al.
Frontiers in Neuroscience|July 19, 2023
Loss of <i>ctnnd2b</i> affects neuronal differentiation and behavior in zebrafishRaquel Vaz, Steven Edwards, Alfredo Dueñas-Rey, et al.
Mutation Research|November 2, 2018
Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosisMaria Pettersson, Jesper Eisfeldt, Elisabeth Syk Lundberg, et al.
Trends in Genetics : TIG|July 12, 2022
Complex genomic rearrangements: an underestimated cause of rare diseasesJakob Schuy, Christopher M Grochowski, Claudia M B Carvalho, et al.
Clinical Genetics|August 15, 2019
Meckel syndrome: Clinical and mutation profile in six fetusesPeriyasamy Radhakrishnan, Shalini S Nayak, Anju Shukla, et al.
Human Genetics|December 14, 2020
Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrierJesper Eisfeldt, Maria Pettersson, Anna Petri, et al.
Frontiers in Genetics|December 12, 2025
Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocationAndrés León, Alex S Aguirre, Anna Lindstrand, et al.
Lakartidningen|October 27, 2020
[Important to evaluate children with visual impairment]Cecilia Fahnehjelm, Sara Dahl, Athanasia Skriapa Manta, et al.
BMC Ophthalmology|September 26, 2023
Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case reportKarl De Geer, Katarzyna Mascianica, Karin Naess, et al.
Lakartidningen|May 11, 2021
[The utility of whole genome sequencing in rare disease diagnostics]Maria Johansson Soller, Ann Nordgren, Hans Ehrencrona, et al.
Pageof 13

Showing results (11-20 of 127) with videos related to

Sort By:
Pageof 13
Acta Ophthalmologica|December 6, 2024
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal diseaseKarl De Geer, Stefan Löfgren, Anna Lindstrand, et al.
Frontiers in Neuroscience|July 19, 2023
Loss of <i>ctnnd2b</i> affects neuronal differentiation and behavior in zebrafishRaquel Vaz, Steven Edwards, Alfredo Dueñas-Rey, et al.
Mutation Research|November 2, 2018
Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosisMaria Pettersson, Jesper Eisfeldt, Elisabeth Syk Lundberg, et al.
Trends in Genetics : TIG|July 12, 2022
Complex genomic rearrangements: an underestimated cause of rare diseasesJakob Schuy, Christopher M Grochowski, Claudia M B Carvalho, et al.
Clinical Genetics|August 15, 2019
Meckel syndrome: Clinical and mutation profile in six fetusesPeriyasamy Radhakrishnan, Shalini S Nayak, Anju Shukla, et al.
Human Genetics|December 14, 2020
Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrierJesper Eisfeldt, Maria Pettersson, Anna Petri, et al.
Frontiers in Genetics|December 12, 2025
Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocationAndrés León, Alex S Aguirre, Anna Lindstrand, et al.
Lakartidningen|October 27, 2020
[Important to evaluate children with visual impairment]Cecilia Fahnehjelm, Sara Dahl, Athanasia Skriapa Manta, et al.
BMC Ophthalmology|September 26, 2023
Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case reportKarl De Geer, Katarzyna Mascianica, Karin Naess, et al.
Lakartidningen|May 11, 2021
[The utility of whole genome sequencing in rare disease diagnostics]Maria Johansson Soller, Ann Nordgren, Hans Ehrencrona, et al.
Pageof 13