Search Results - Anna Lindstrand

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  1. 1
    Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques

    Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques by Raquel Vaz, Wolfgang Hofmeister, Anna Lindstrand

    Published 2019
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  2. 2
    TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data

    TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data by Jesper Eisfeldt, Francesco Vezzi, Pall I. Olason, Daniel Nilsson, Anna Lindstrand

    Published 2017
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  3. 3
    TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data

    TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data by Jesper Eisfeldt, Francesco Vezzi, Pall I. Olason, Daniel Nilsson, Anna Lindstrand

    Published 2017
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  4. 4
    Complex genomic rearrangements: an underestimated cause of rare diseases

    Complex genomic rearrangements: an underestimated cause of rare diseases by Jakob Schuy, Christopher M. Grochowski, Claudia M.B. Carvalho, Anna Lindstrand

    Published 2022
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  5. 5
    Whole‐genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting

    Whole‐genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting by E. Westenius, Peter Conner, Maria Pettersson, Ellika Sahlin, Nikos Papadogiannakis, Anna Lindstrand, Erik Iwarsson

    Published 2024
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  6. 6
    The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders

    The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders by Hannes Runheim, Maria Pettersson, Anna Hammarsjö, Ann Nordgren, Martin Henriksson, Anna Lindstrand, Lars‐Åke Levin, Maria Soller

    Published 2023
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  7. 7
    Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways

    Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways by Maria Pettersson, Heli Viljakainen, Petra Loid, Taina Mustila, Minna Pekkinen, Miriam Armenio, Johanna C. Andersson‐Assarsson, Outi Mäkitie, Anna Lindstrand

    Published 2017
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  8. 8
    Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland

    Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland by Heli Viljakainen, Johanna C. Andersson‐Assarsson, Miriam Armenio, Minna Pekkinen, Maria Pettersson, Helena Valta, Marita Lipsanen‐Nyman, Outi Mäkitie, Anna Lindstrand

    Published 2015
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  9. 9
    Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

    Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements by Jesper Eisfeldt, Maria Pettersson, Francesco Vezzi, Josephine Wincent, Max Käller, Joel Gruselius, Daniel Nilsson, Elisabeth Syk Lundberg, Claudia M.B. Carvalho, Anna Lindstrand

    Published 2019
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  10. 10
    Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals

    Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals by Olivia J. Henry, Sofia Ygberg, Michela Barbaro, Nicole Lesko, Leif Karlsson, Lucía Peña‐Pérez, Ann Båvner, Virpi Töhönen, Anna Lindstrand, Tommy Stödberg, Anna Wedell

    Published 2025
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  11. 11
    Precision medicine in rare diseases: What is next?

    Precision medicine in rare diseases: What is next? by Bianca Tesi, Cathérine Boileau, Kym M. Boycott, Guillaume Canaud, Mark J. Caulfield, Daniela Choukair, Sue Hill, Malte Spielmann, Anna Wedell, Valtteri Wirta, Ann Nordgren, Anna Lindstrand

    Published 2023
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  12. 12
    Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

    Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features by Emma Tham, Anna Lindstrand, Avni Santani, Helena Malmgren, Addie I. Nesbitt, Holly Dubbs, Elaine H. Zackai, Michael Parker, Francisca Millan, Kenneth N. Rosenbaum, Golder N. Wilson, Ann Nordgren

    Published 2015
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  13. 13
    Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

    Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome by Christopher M. Grochowski, Ana Cristina Victorino Krepischi, Jesper Eisfeldt, Haowei Du, Débora Romeo Bertola, Danyllo Oliveira, Silvia Souza da Costa, James R. Lupski, Anna Lindstrand, Claudia M.B. Carvalho

    Published 2021
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  14. 14
    <i>PLS3</i> Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization

    <i>PLS3</i> Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization by Anders Kämpe, Alice Costantini, Yael Levy‐Shraga, Leonid Zeitlin, Paul Roschger, Fulya Taylan, Anna Lindstrand, Eleftherios P. Paschalis, Sonja Gamsjaeger, Annick Raas‐Rothschild, M. Hövel, Hong Jiao, Klaus Klaushofer, Corinna Grasemann, Outi Mäkitie

    Published 2017
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  15. 15
    Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

    Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome by Chaofan Zhang, Juliana F. Mazzeu, Jesper Eisfeldt, Christopher M. Grochowski, Janson J. White, Zeynep Coban‐Akdemir, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Anna Lindstrand, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho

    Published 2020
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  16. 16
    Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

    Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome by Anna Lindstrand, Stephan G. Frangakis, Claudia M.B. Carvalho, Ellen Richardson, Kelsey McFadden, Jason R. Willer, Davut Pehli̇van, Pengfei Liu, Igor Pediaditakis, Aniko Sabo, Richard A. Lewis, Eyal Banin, James R. Lupski, Erica E. Davis, Nicholas Katsanis

    Published 2016
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  17. 17
    A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy

    A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy by Sofia Ygberg, Evgeny E. Akkuratov, Rebecca J. Howard, Fulya Taylan, Daniel C. Jans, Dhani Ram Mahato, Adriana Katz, Paula Fernanda Kinoshita, Benjamin Portal, Inger Nennesmo, Maria Lindskog, Steven J.D. Karlish, Magnus Andersson, Anna Lindstrand, Hjalmar Brismar, Anita Aperia

    Published 2021
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  18. 18
    Cytogenetically visible inversions are formed by multiple molecular mechanisms

    Cytogenetically visible inversions are formed by multiple molecular mechanisms by Maria Pettersson, Christopher M. Grochowski, Josephine Wincent, Jesper Eisfeldt, Amy M. Breman, Sau Wai Cheung, Ana Cristina Victorino Krepischi, Carla Rosenberg, James R. Lupski, Jesper Ottosson, Lovisa Lovmar, Jelena Gacic, Elisabeth Syk Lundberg, Daniel Nilsson, Claudia M.B. Carvalho, Anna Lindstrand

    Published 2020
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  19. 19
    De novo mutations in <i>FLNC</i> leading to early-onset restrictive cardiomyopathy and congenital myopathy

    De novo mutations in <i>FLNC</i> leading to early-onset restrictive cardiomyopathy and congenital myopathy by Artem Kiselev, Raquel Vaz, Anastasia Knyazeva, Aleksandr Khudiakov, S. I. Tarnovskaya, Jiao Liu, Alexey Sergushichev, С. В. Казаков, Dmitrij Frishman, Natalia Smolina, Т. М. Первунина, John Jörholt, Gunnar Sjöberg, Т. Л. Вершинина, Д И Руденко, Anders Arner, Thomas Sejersen, Anna Lindstrand, Anna Kostareva

    Published 2018
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  20. 20
    Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome

    Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome by Anna Lindstrand, Erica E. Davis, Claudia M.B. Carvalho, Davut Pehli̇van, Jason R. Willer, I-Chun Tsai, Subhadra Ramanathan, Craig W. Zuppan, Aniko Sabo, Donna M. Muzny, Richard A. Gibbs, Pengfei Liu, Richard A. Lewis, Eyal Banin, James R. Lupski, Robin D. Clark, Nicholas Katsanis

    Published 2014
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