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Maria Pettersson

Showing results (31-40 of 54) with videos related to

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Plos One|July 2, 2015
Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in FinlandHeli Viljakainen, Johanna C Andersson-Assarsson, Miriam Armenio, et al.
Frontiers in Endocrinology|July 26, 2018
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal FragilityAlice Costantini, Sini Skarp, Anders Kämpe, et al.
Ambio|January 9, 2016
Reducing the risk of invasive forest pests and pathogens: Combining legislation, targeted management and public awarenessMaartje J Klapwijk, Anna J M Hopkins, Louise Eriksson, 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.
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.
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.
Human Mutation|August 7, 2018
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasiasMaria Pettersson, Raquel Vaz, Anna Hammarsjö, et al.
Molecular Genetics & Genomic Medicine|October 22, 2014
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart diseaseTobias Laurell, Daniel Nilsson, Wolfgang Hofmeister, et al.
Frontiers in Genetics|July 10, 2023
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndromeAlexandra Garza Flores, Ida Nordgren, Maria Pettersson, et al.
Genetics in Medicine Open|December 13, 2024
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangementsJakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, et al.
Pageof 6

Showing results (31-40 of 54) with videos related to

Sort By:
Pageof 6
Plos One|July 2, 2015
Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in FinlandHeli Viljakainen, Johanna C Andersson-Assarsson, Miriam Armenio, et al.
Frontiers in Endocrinology|July 26, 2018
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal FragilityAlice Costantini, Sini Skarp, Anders Kämpe, et al.
Ambio|January 9, 2016
Reducing the risk of invasive forest pests and pathogens: Combining legislation, targeted management and public awarenessMaartje J Klapwijk, Anna J M Hopkins, Louise Eriksson, 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.
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.
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.
Human Mutation|August 7, 2018
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasiasMaria Pettersson, Raquel Vaz, Anna Hammarsjö, et al.
Molecular Genetics & Genomic Medicine|October 22, 2014
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart diseaseTobias Laurell, Daniel Nilsson, Wolfgang Hofmeister, et al.
Frontiers in Genetics|July 10, 2023
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndromeAlexandra Garza Flores, Ida Nordgren, Maria Pettersson, et al.
Genetics in Medicine Open|December 13, 2024
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangementsJakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, et al.
Pageof 6