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Anna Lindstrand

Showing results (51-60 of 127) with videos related to

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Scientific Reports|January 23, 2025
A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer diseaseEmma Ehn, Jesper Eisfeldt, Jose M Laffita-Mesa, et al.
Plos Genetics|February 9, 2019
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangementsJesper Eisfeldt, Maria Pettersson, Francesco Vezzi, et al.
Epilepsia|April 4, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individualsOlivia J Henry, Sofia Ygberg, Michela Barbaro, et al.
American Journal of Medical Genetics. Part A|November 8, 2024
Structural Variants in COL1A1 and COL1A2 in Osteogenesis ImperfectaDominyka Batkovskyte, Diana Swolin-Eide, Anna Hammarsjö, et al.
Plos One|March 13, 2018
High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencingAnh Nhi Tran, Fulya Taylan, Vasilios Zachariadis, et al.
Genome Research|March 25, 2026
Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencingKristine Bilgrav Saether, Angelo Salazar Mantero, Marlene Ek, et al.
Clinical Genetics|March 29, 2019
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowthSofia Frisk, Fulya Taylan, Izabela Blaszczyk, et al.
Molecular Genetics & Genomic Medicine|January 12, 2019
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotationKarin Salehi Karlslätt, Maria Pettersson, Nina Jäntti, et al.
Molecular Genetics & Genomic Medicine|May 3, 2019
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate geneJohanna Lundin, Ellen Markljung, Izabella Baranowska Körberg, et al.
Journal of Internal Medicine|May 22, 2023
Precision medicine in rare diseases: What is next?Bianca Tesi, Catherine Boileau, Kym M Boycott, et al.
Pageof 13

Showing results (51-60 of 127) with videos related to

Sort By:
Pageof 13
Scientific Reports|January 23, 2025
A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer diseaseEmma Ehn, Jesper Eisfeldt, Jose M Laffita-Mesa, et al.
Plos Genetics|February 9, 2019
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangementsJesper Eisfeldt, Maria Pettersson, Francesco Vezzi, et al.
Epilepsia|April 4, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individualsOlivia J Henry, Sofia Ygberg, Michela Barbaro, et al.
American Journal of Medical Genetics. Part A|November 8, 2024
Structural Variants in COL1A1 and COL1A2 in Osteogenesis ImperfectaDominyka Batkovskyte, Diana Swolin-Eide, Anna Hammarsjö, et al.
Plos One|March 13, 2018
High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencingAnh Nhi Tran, Fulya Taylan, Vasilios Zachariadis, et al.
Genome Research|March 25, 2026
Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencingKristine Bilgrav Saether, Angelo Salazar Mantero, Marlene Ek, et al.
Clinical Genetics|March 29, 2019
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowthSofia Frisk, Fulya Taylan, Izabela Blaszczyk, et al.
Molecular Genetics & Genomic Medicine|January 12, 2019
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotationKarin Salehi Karlslätt, Maria Pettersson, Nina Jäntti, et al.
Molecular Genetics & Genomic Medicine|May 3, 2019
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate geneJohanna Lundin, Ellen Markljung, Izabella Baranowska Körberg, et al.
Journal of Internal Medicine|May 22, 2023
Precision medicine in rare diseases: What is next?Bianca Tesi, Catherine Boileau, Kym M Boycott, et al.
Pageof 13