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Anna Lindstrand

Showing results (81-90 of 127) with videos related to

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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.
Human Mutation|June 3, 2018
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathyArtem Kiselev, Raquel Vaz, Anastasia Knyazeva, 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.
Cambridge Prisms. Precision Medicine|March 29, 2024
Building a precision medicine infrastructure at a national level: The Swedish experienceAnders Edsjö, Anna Lindstrand, David Gisselsson, et al.
The Journal of Biological Chemistry|October 31, 2021
A missense mutation converts the Na<sup>+</sup>,K<sup>+</sup>-ATPase into an ion channel and causes therapy-resistant epilepsySofia Ygberg, Evgeny E Akkuratov, Rebecca J Howard, et al.
American Journal of Human Genetics|August 4, 2016
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl SyndromeAnna Lindstrand, Stephan Frangakis, Claudia M B Carvalho, et al.
Frontiers in Genetics|October 15, 2019
Ataxia in Patients With Bi-Allelic <i>NFASC</i> Mutations and Absence of Full-Length NF186Malin Kvarnung, Mansoureh Shahsavani, Fulya Taylan, et al.
European Journal of Human Genetics : EJHG|May 14, 2015
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9Emma Tham, Erik A Eklund, Anna Hammarsjö, et al.
Human Mutation|September 9, 2020
Cytogenetically visible inversions are formed by multiple molecular mechanismsMaria Pettersson, Christopher M Grochowski, Josephine Wincent, et al.
Frontiers in Neurology|June 5, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disordersMarlene Ek, Daniel Nilsson, Martin Engvall, et al.
Pageof 13

Showing results (81-90 of 127) with videos related to

Sort By:
Pageof 13
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.
Human Mutation|June 3, 2018
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathyArtem Kiselev, Raquel Vaz, Anastasia Knyazeva, 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.
Cambridge Prisms. Precision Medicine|March 29, 2024
Building a precision medicine infrastructure at a national level: The Swedish experienceAnders Edsjö, Anna Lindstrand, David Gisselsson, et al.
The Journal of Biological Chemistry|October 31, 2021
A missense mutation converts the Na<sup>+</sup>,K<sup>+</sup>-ATPase into an ion channel and causes therapy-resistant epilepsySofia Ygberg, Evgeny E Akkuratov, Rebecca J Howard, et al.
American Journal of Human Genetics|August 4, 2016
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl SyndromeAnna Lindstrand, Stephan Frangakis, Claudia M B Carvalho, et al.
Frontiers in Genetics|October 15, 2019
Ataxia in Patients With Bi-Allelic <i>NFASC</i> Mutations and Absence of Full-Length NF186Malin Kvarnung, Mansoureh Shahsavani, Fulya Taylan, et al.
European Journal of Human Genetics : EJHG|May 14, 2015
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9Emma Tham, Erik A Eklund, Anna Hammarsjö, et al.
Human Mutation|September 9, 2020
Cytogenetically visible inversions are formed by multiple molecular mechanismsMaria Pettersson, Christopher M Grochowski, Josephine Wincent, et al.
Frontiers in Neurology|June 5, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disordersMarlene Ek, Daniel Nilsson, Martin Engvall, et al.
Pageof 13